Cooperative research for new Hope

About SphinCS
For Patients
For Companies
For Physicians

Cooperative research for new Hope

About SphinCS

RESEARCH WITH HEART AND MIND

Our teacher, our mentor, our doctoral advisor: Professor Michael Beck, whom we still called our "chief" with great pleasure, has gone. He leaves behind a big blank.

More about SphinCS
SphinCS - Clinical Science for LSD | SphinCS - Clinical Science for LSD | Hochheim

Prof. Michael Beck

Current Studies

Mucopolysaccharidosis
DNLI-E-0007
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants with Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II.
Age

≥ 2 to <26 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Lysosomal Acid Lipase Disease
ALX LALD Register
An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
M. Niemann-Pick Typ C
CTD-TCNPC-301
A Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety , Tolerability, and Efficacy of ( 2000 mg/kg) of Trappsol® Cyclo ™(Hydroxypropyl-β-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients with Niemann-Pick Disease Type C1
Age

without age restriction

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
Fabry Disease
Modify
A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of Lucerastat oral monotherapy in adult subjects with Fabry Disease
Age

> 18 Years

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
ASMD
PIR 16813
A prospective and retrospective cohort study to refine and expand the knowledge on patients with chronic forms of ASMD
Age

No age limit

Status inactive

Patient admission closed

Institution SphinCS GmbH

Natural-History-Study
GM1-Gangliosidosis GM2-Gangliosidosis
Gangliosidosis „8 in 1“
This is a retrospective and prospective and longitudinal, non-interventional study on the natural course of gangliosidoseovers over 5 years
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Study
ASMD M. Niemann-Pick Typ C
INPDR-NP registry
International Niemann-Pick Disease Registry – An International Rare Disease Registry for
Niemann-Pick Disease Type A, B or C.
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Study
M. Niemann-Pick Typ C
CT-ORZY-NPC-002
Arimoclomol prospective double-blind, randomised, placebo-controlled study in patients diagnosed with Niemann-Pick disease type C
Age

6 - 23 Month

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
M. Niemann-Pick Typ C
IB1001-301
Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study
Age

From 4 years ago

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
Gaucher Disease
Prevail J3Z-MC-OJAE
An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease
Age

18-65 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Mucopolysaccharidosis
JR-141-GS31
A Phase III study of JR-141 in Mucopolysaccharidosis type II(Hunter Syndrome) patients
Age

from 36 months

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Pompe Disease
Amicus-ATB200-08
An open-label study to evaluate the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of cipaglucosidase alfa/miglustat in both ERT experienced and ERT-naive pediatric subjects with infantile-onset pompe disease
Age

0-18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Pompe Disease
Amicus-ATB200-04
An open-label study of the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of ATB200/AT2221 in pediatric subjects with pompe disease
Age

0 >18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Fabry Disease
PERIDOT_EFC17045
A randomized double-blind, placebo-controlled, 12-month phase 3 study to evaluate the effect of Venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months
Age

 ≥16 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Gaucher Disease
EFC 17215
Study to evaluate the efficacy and safety of Venglustat in adult and pediatric patients with Gaucher disease Type 3 who have reached therapeutic goals with ERT
Age

≥12 and <18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Fabry Disease
CARAT_EFC16158
A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of Venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy
Age

18 to 65

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Pompe Disease
Astellas Pompe AT845
A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients with Late-Onset Pompe Disease
Age

16 to 69 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

Self-help groups

Gaucher Gesellschaft Deutschland e.V.
https://www.ggd-ev.de/

Niemann-Pick Selbsthilfegruppe Deutschland e.V.
https://www.niemann-pick-selbsthilfegruppe.de

Hand in Hand gegen Tay-Sachs und Sandhoff in Deutschland e.V.
http://tay-sachs-sandhoff.de/

Morbus Fabry Selbsthilfegruppe e.V.
https://fabry-shg.org/

Pompe Deutschland e.V.
https://www.mpompe.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

Niemann-Pick Selbsthilfegruppe Deutschland e.V.
https://www.niemann-pick.de/

Selbsthilfegruppe Glykogenose Deutschland e.V.
https://www.glykogenose.de/de/

Cystinose-Selbsthilfe e.V.
https://www.cystinose-selbsthilfe.de/

At the moment we are not aware of any self-help groups.

Literature

Cassiman, D., S. Packman, B. Bembi, H. B. Turkia, M. Al-Sayed, M. Schiff, J. Imrie, P. Mabe, T. Takahashi, K. E. Mengel, R. Giugliani, and G. F. Cox.

Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases
Mol Genet Metab 118, no. 3 (Jul 2016): 206-13.
Link to the publication

Cassiman, D., S. Packman, B. Bembi, H. B. Turkia, M. Al-Sayed, M. Schiff, J. Imrie, P. Mabe, T. Takahashi, K. E. Mengel, R. Giugliani, and G. F. Cox.

Corrigendum to "Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases
[Mol. Genet. Metab. 118 (2016) 206-213]." Mol Genet Metab 125, no. 4 (Dec 2018): 360.
Link to the publication

Harzer, K., A. Rolfs, P. Bauer, M. Zschiesche, E. Mengel, J. Backes, B. Kustermann-Kuhn, G. Bruchelt, O. P. van Diggelen, H. Mayrhofer, and I. Krageloh-Mann. 

Niemann-Pick Disease Type a and B Are Clinically but Also EnzymaLcally Heterogeneous: Pihall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the MutaLon Q292 K.
Neuropediatrics 34, no. 6 (Dec 2003): 301-6.
Link to the publication

McGovern, M. M., C. Dionisi-Vici, R. Giugliani, P. Hwu, O. Lidove, Z. Lukacs, K. Eugen Mengel, P. K. Mistry, E. H. Schuchman, and M. P. Wasserstein. 

Consensus RecommendaLon for a DiagnosLc Guideline for Acid Sphingomyelinase Deficiency
Genet Med 19, no. 9 (Sep 2017): 967-74.
Link to the publication

McGovern, M. M., M. P. Wasserstein, R. Giugliani, B. Bembi, M. T. Vanier, E. Mengel, S. E. Brodie, D. Mendelson, G. Skloot, R. J. Desnick, N. Kuriyama, and G. F. Cox. 

A ProspecLve, Cross- SecLonal Survey Study of the Natural History of Niemann-Pick Disease Type B
Pediatrics 122, no. 2 (Aug 2008): e341-9.
Link to the publication

Mendelson, D. S., M. P. Wasserstein, R. J. Desnick, R. Glass, W. Simpson, G. Skloot, M. Vanier, B. Bembi, R. Giugliani, E. Mengel, G. F. Cox, and M. M. McGovern. 

Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-SecLon Ct, and Pulmonary FuncLon TesLng.
Radiology 238, no. 1 (Jan 2006): 339-45.
Link to the publication

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel. 

CriLcal Assessment of Chitotriosidase Analysis in the RaLonal Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
Link to the publication

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding DifferenLal Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Link to the publication

Van Diggelen, O. P., Y. V. Voznyi, J. L. Keulemans, K. Schoonderwoerd, J. Ledvinova, E. Mengel, M. Zschiesche, R. Santer, and K. Harzer. 

A New Fluorimetric Enzyme Assay for the Diagnosis of Niemann-Pick a/B, with Specificity of Natural Sphingomyelinase Substrate
J Inherit Metab Dis 28, no. 5 (2005): 733-41.
Link to the publication

Vom Dahl, S., and E. Mengel. 

Lysosomal Storage Diseases as DifferenLal Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Link to the publication

Wasserstein, M., C. Dionisi-Vici, R. Giugliani, W. L. Hwu, O. Lidove, Z. Lukacs, E. Mengel, P. K. Mistry, E. H. Schuchman, and M. McGovern.

Recommendations for Clinical Monitoring of PaLents with Acid Sphingomyelinase Deficiency (Asmd)
Mol Genet Metab 126, no. 2 (Feb 2019): 98-105.
Link to the publication

Belmatoug, N., A. Burlina, P. Giraldo, C. J. Hendriksz, D. J. Kuter, E. Mengel, and G. M. Pastores. 

Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients
J Inherit Metab Dis 34, no. 5 (Oct 2011): 991-1001.
Link to the publication

Bonnot, O., C. S. Gama, E. Mengel, M. Pineda, M. T. Vanier, L. Watson, M. Watissee, B. Schwierin, and M. C. Patterson. "Psychiatric and Neurological Symptoms in Patients with Niemann-Pick Disease Type C (Np-C).

Psychiatric and Neurological Symptoms in Patients with Niemann-Pick Disease Type C (Np-C): Findings from the International Npc Registry
World J Biol Psychiatry 20, no. 4 (Apr 2019): 310-19.
Link to the publication

Bremova, T., V. Malinova, Y. Amraoui, E. Mengel, J. Reinke, M. Kolnikova, and M. Strupp.

Acetyl-Dl-Leucine in Niemann-Pick Type C: A Case Series
Neurology 85, no. 16 (Oct 20 2015): 1368-75.
Link to the publication

Cortina-Borja, M., D. Te Vruchte, E. Mengel, Y. Amraoui, J. Imrie, S. A. Jones, I. Dali C, P. Fineran, T. Kirkegaard, H. Runz, R. Lachmann, T. Bremova-Ertl, M. Strupp, and F. M. Platt.

Annual Severity Increment Score as a Tool for Stratifying Patients with Niemann-Pick Disease Type C and for Recruitment to Clinical Trials.
Orphanet J Rare Dis 13, no. 1 (Aug 16 2018): 143.
Link to the publication

Geberhiwot, T., A. Moro, A. Dardis, U. Ramaswami, S. Sirrs, M. P. Marfa, M. T. Vanier, M. Walterfang, S. Bolton, C. Dawson, B. Heron, M. Stampfer, J. Imrie, C. Hendriksz, P. Gissen, E. Crushell, M. J. Coll, Y. Nadjar, H. Klunemann, E. Mengel, M. Hrebicek, S. A. Jones, D. Ory, B. Bembi, M. Patterson, and Registry International Niemann-Pick Disease.

Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Orphanet J Rare Dis 13, no. 1 (Apr 6 2018): 50.
Link to the publication

Group, Np- C. Guidelines Working, J. E. Wraith, M. R. Baumgartner, B. Bembi, A. Covanis, T. Levade, E. Mengel, M. Pineda, F. Sedel, M. Topcu, M. T. Vanier, H. Widner, F. A. Wijburg, and M. C. Patterson

Recommendations on the Diagnosis and Management of Niemann-Pick Disease Type C
Mol Genet Metab 98, no. 1-2 (Sep-Oct 2009): 152-65.
Link to the publication

Maekawa, M., A. Narita, I. Jinnoh, T. Iida, T. Marquardt, E. Mengel, Y. Eto, P. T. Clayton, H. Yamaguchi, and N. Mano

Diagnostic Performance Evaluation of Sulfate-Conjugated Cholesterol Metabolites as Urinary Biomarkers of Niemann-Pick Disease Type C
Clin Chim Acta 494 (Jul 2019): 58-63.
Link to the publication

Mengel, E., H. H. Klunemann, C. M. Lourenco, C. J. Hendriksz, F. Sedel, M. Walterfang, and S. A. Kolb

Niemann-Pick Disease Type C Symptomatology: An Expert-Based Clinical Description
Orphanet J Rare Dis 8 (Oct 17 2013): 166.
Link to the publication

Mengel, E., M. Pineda, C. J. Hendriksz, M. Walterfang, J. V. Torres, and S. A. Kolb

Differences in Niemann-Pick Disease Type C Symptomatology Observed in Patients of Different Ages
Mol Genet Metab 120, no. 3 (Mar 2017): 180-89.
Link to the publication

Patterson, M. C., E. Mengel, M. T. Vanier, B. Schwierin, A. Muller, P. Cornelisse, M. Pineda, and N. P. C. Registry investigators

Stable or Improved Neurological Manifestations During Miglustat Therapy in Patients from the International Disease Registry for Niemann-Pick Disease Type C: An Observational Cohort Study
Orphanet J Rare Dis 10 (May 28 2015): 65.
Link to the publication

Patterson, M. C., E. Mengel, F. A. Wijburg, A. Muller, B. Schwierin, H. Drevon, M. T. Vanier, and M. Pineda.

Disease and Patient Characteristics in Np-C Patients: Findings from an International Disease Registry
Orphanet J Rare Dis 8 (Jan 16 2013): 12.
Link to the publication

Pineda, M., E. Mengel, H. Jahnova, B. Heron, J. Imrie, C. M. Lourenco, V. van der Linden, P. Karimzadeh, V. Valayannopoulos, P. Jesina, J. V. Torres, and S. A. Kolb

A Suspicion Index to Aid Screening of Early-Onset Niemann-Pick Disease Type C (Np-C)
BMC Pediatr 16 (Jul 22 2016): 107.
Link to the publication

Pineda, M., J. E. Wraith, E. Mengel, F. Sedel, W. L. Hwu, M. Rohrbach, B. Bembi, M. Walterfang, G. C. Korenke, T. Marquardt, C. Luzy, R. Giorgino, and M. C. Patterson

Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study
Mol Genet Metab 98, no. 3 (Nov 2009): 243-9.
Link to the publication

Reunert, J., A. S. Lotz-Havla, G. Polo, F. Kannenberg, M. Fobker, M. Griese, E. Mengel, A. C. Muntau, P. Schnabel, O. Sommerburg, I. Borggraefe, A. Dardis, A. P. Burlina, M. A. Mall, G. Ciana, B. Bembi, A. B. Burlina, and T. Marquardt

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5alpha,6beta-Triol and Further Insight into the Clinical Phenotype
JIMD Rep 23 (2015): 17-26.
Link to the publication

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel

Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
Link to the publication

Speak, A. O., N. Platt, M. Salio, D. te Vruchte, D. A. Smith, D. Shepherd, N. Veerapen, G. S. Besra, N. M. Yanjanin, L. Simmons, J. Imrie, J. E. Wraith, R. H. Lachmann, R. Hartung, H. Runz, E. Mengel, M. Beck, C. J. Hendriksz, F. D. Porter, V. Cerundolo, and F. M. Platt

Invariant Natural Killer T Cells Are Not Affected by Lysosomal Storage in Patients with Niemann-Pick Disease Type C
Eur J Immunol 42, no. 7 (Jul 2012): 1886-92.
Link to the publication

Speak, A. O., D. Te Vruchte, L. C. Davis, A. J. Morgan, D. A. Smith, N. M. Yanjanin, L. Simmons, R. Hartung, H. Runz, E. Mengel, M. Beck, J. Imrie, E. Jacklin, J. E. Wraith, C. Hendriksz, R. Lachmann, C. Cognet, R. Sidhu, H. Fujiwara, D. S. Ory, A. Galione, F. D. Porter, E. Vivier, and F. M. Platt

Altered Distribution and Function of Natural Killer Cells in Murine and Human Niemann-Pick Disease Type C1
Blood 123, no. 1 (Jan 2 2014): 51-60.
Link to the publication

Stampfer, M., S. Theiss, Y. Amraoui, X. Jiang, S. Keller, D. S. Ory, E. Mengel, C. Fischer, and H. Runz

Niemann-Pick Disease Type C Clinical Database: Cognitive and Coordination Deficits Are Early Disease Indicators
Orphanet J Rare Dis 8 (Feb 22 2013): 35.
Link to the publication

Tangemo, C., D. Weber, S. Theiss, E. Mengel, and H. Runz

Niemann-Pick Type C Disease: Characterizing Lipid Levels in Patients with Variant Lysosomal Cholesterol Storage
J Lipid Res 52, no. 4 (Apr 2011): 813-25.
Link to the publication

te Vruchte, D., A. O. Speak, K. L. Wallom, N. Al Eisa, D. A. Smith, C. J. Hendriksz, L. Simmons, R. H. Lachmann, A. Cousins, R. Hartung, E. Mengel, H. Runz, M. Beck, Y. Amraoui, J. Imrie, E. Jacklin, K. Riddick, N. M. Yanjanin, C. A. Wassif, A. Rolfs, F. Rimmele, N. Wright, C. Taylor, U. Ramaswami, T. M. Cox, C. Hastings, X. Jiang, R. Sidhu, D. S. Ory, B. Arias, M. Jeyakumar, D. J. Sillence, J. E. Wraith, F. D. Porter, M. Cortina-Borja, and F. M. Platt

Relative Acidic Compartment Volume as a Lysosomal Storage Disorder-Associated Biomarker
J Clin Invest 124, no. 3 (Mar 2014): 1320-8.
Link to the publication

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski. "Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Link to the publication

Vom Dahl, S., and E. Mengel

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Link to the publication

Welford, R. W., M. Garzotti, C. Marques Lourenco, E. Mengel, T. Marquardt, J. Reunert, Y. Amraoui, S. A. Kolb, O. Morand, and P. Groenen

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
PLoS One 9, no. 12 (2014): e114669.
Link to the publication

Boentert, M., N. Karabul, S. Wenninger, B. Stubbe-Drager, E. Mengel, B. Schoser, and P. Young

Sleep-Related Symptoms and Sleep-Disordered Breathing in Adult Pompe Disease
Eur J Neurol 22, no. 2 (Feb 2015): 369-76, e27.
Link to the publication

Byrne, B. J., T. Geberhiwot, B. A. Barshop, R. Barohn, D. Hughes, D. Bratkovic, C. Desnuelle, P. Laforet, E. Mengel, M. Roberts, P. Haroldsen, K. Reilley, K. Jayaram, K. Yang, L. Walsh, and P. O. M. Investigators

A Study on the Safety and Efficacy of Reveglucosidase Alfa in Patients with Late-Onset Pompe Disease
Orphanet J Rare Dis 12, no. 1 (Aug 24 2017): 144.
Link to the publication

Chien, Y. H., A. van der Ploeg, S. Jones, B. Byrne, A. Vellodi, N. Leslie, E. Mengel, S. P. Shankar, P. Tanpaiboon, D. W. Stockton, J. B. Hennermann, Z. Devecseri, J. Kempf, J. Keutzer, and P. Kishnani

Survival and Developmental Milestones among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy
J Neuromuscul Dis 2, no. s1 (2015): S61-S62.
Link to the publication

El-Gharbawy, A. H., G. Bhat, J. E. Murillo, B. L. Thurberg, C. Kampmann, K. E. Mengel, and P. S. Kishnani

Expanding the Clinical Spectrum of Late-Onset Pompe Disease: Dilated Arteriopathy Involving the Thoracic Aorta, a Novel Vascular Phenotype Uncovered
Mol Genet Metab 103, no. 4 (Aug 2011): 362-6.
Link to the publication

Gokce, S., N. Karabul, J. B. Hennermann, and E. Mengel

Motor Development in Infantile Pompe Disease
J Neuromuscul Dis 2, no. s1 (2015): S18.
Link to the publication

Hahn, A., J. B. Hennermann, M. Huemer, C. Kampmann, T. Marquardt, E. Mengel, W. Muller-Felber, N. Muschol, M. Rohrbach, and F. Stehling

Diagnosis and Care of Infants and Children with Pompe Disease
Klin Padiatr (Feb 18 2020). Diagnostik und Therapie des Morbus Pompe im Kindesalter.
Link to the publication

Hahn, A., S. Praetorius, N. Karabul, J. Diessel, D. Schmidt, R. Motz, C. Haase, M. Baethmann, J. B. Hennermann, M. Smitka, R. Santer, N. Muschol, A. Meyer, T. Marquardt, M. Huemer, C. Thiels, M. Rohrbach, G. Seyfullah, and E. Mengel

Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
JIMD Rep 20 (2015): 65-75.
Link to the publication

Hauser, F., S. Gokce, G. Werner, S. Danckwardt, S. Sollfrank, C. Neukirch, V. Beyer, J. B. Hennermann, K. J. Lackner, E. Mengel, and H. Rossmann

A Non-Invasive Diagnostic Assay for Rapid Detection and Characterization of Aberrant Mrna-Splicing by Nonsense Mediated Decay Inhibition
Mol Genet Metab (Mar 19 2020).
Link to the publication

Herzog, A., R. Hartung, A. J. Reuser, P. Hermanns, H. Runz, N. Karabul, S. Gokce, J. Pohlenz, C. Kampmann, C. Lampe, M. Beck, and E. Mengel

A Cross-Sectional Single-Centre Study on the Spectrum of Pompe Disease, German Patients: Molecular Analysis of the Gaa Gene, Manifestation and Genotype-Phenotype Correlations
Orphanet J Rare Dis 7 (Jun 7 2012): 35.
Link to the publication

Karabul, N., J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Pregnancy and Delivery in Women with Pompe Disease
Mol Genet Metab 112, no. 2 (Jun 2014): 148-53.
Link to the publication

Karabul, N., A. Skudlarek, J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
JIMD Rep 17 (2014): 53-61.
Link to the publication

Karabul, N., A. Skudlarek, J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
JIMD Rep 17 (2014): 53-61.
Link to the publication

Lagler, F. B., A. Moder, M. Rohrbach, J. Hennermann, E. Mengel, S. Gokce, T. Hundsberger, K. M. Rosler, N. Karabul, and M. Huemer

Extent, Impact, and Predictors of Diagnostic Delay in Pompe Disease: A Combined Survey Approach to Unveil the Diagnostic Odyssey
IMD Rep 49, no. 1 (Sep 2019): 89-95.
Link to the publication

Lollert, A., C. Stihl, A. M. Hotker, E. Mengel, J. Konig, K. Laudemann, S. Gokce, C. Duber, and G. Staatz

Quantification of Intramuscular Fat in Patients with Late-Onset Pompe Disease by Conventional Magnetic Resonance Imaging for the Long-Term Follow-up of Enzyme Replacement Therapy
PLoS One 13, no. 1 (2018): e0190784.
Link to the publication

Lukacs, Z., P. Nieves Cobos, E. Mengel, R. Hartung, M. Beck, M. Deschauer, A. Keil, and R. Santer

Diagnostic Efficacy of the Fluorometric Determination of Enzyme Activity for Pompe Disease from Dried Blood Specimens Compared with Lymphocytes-Possibility for Newborn Screening
J Inherit Metab Dis 33, no. 1 (Feb 2010): 43-50.
Link to the publication

Pena, L. D. M., R. J. Barohn, B. J. Byrne, C. Desnuelle, O. Goker-Alpan, S. Ladha, P. Laforet, K. E. Mengel, A. Pestronk, J. Pouget, B. Schoser, V. Straub, J. Trivedi, P. Van Damme, J. Vissing, P. Young, K. Kacena, R. Shafi, B. L. Thurberg, K. Culm-Merdek, A. T. van der Ploeg, and N. E. O. Investigator Group

Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of the Novel Enzyme Replacement Therapy Avalglucosidase Alfa (Neogaa) in Treatment-Naive and Alglucosidase Alfa-Treated Patients with Late-Onset Pompe Disease: A Phase 1, O
Neuromuscul Disord 29, no. 3 (Mar 2019): 167-86.
Link to the publication

Pompe Disease Diagnostic Working, Group, B. Winchester, D. Bali, O. A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, E. Cupler, M. Deschauer, K. Fumic, M. Jackson, P. Kishnani, L. Lacerda, J. Ledvinova, A. Lugowska, Z. Lukacs, I. Maire, H. Mandel, E. Mengel, W. Muller-Felber, M. Piraud, A. Reuser, T. Rupar, I. Sinigerska, M. Szlago, F. Verheijen, O. P. van Diggelen, B. Wuyts, E. Zakharova, and J. Keutzer

Methods for a Prompt and Reliable Laboratory Diagnosis of Pompe Disease: Report from an International Consensus Meeting
Mol Genet Metab 93, no. 3 (Mar 2008): 275-81.
Link to the publication

Regnery, C., C. Kornblum, F. Hanisch, S. Vielhaber, N. Strigl-Pill, B. Grunert, W. Muller-Felber, F. X. Glocker, M. Spranger, M. Deschauer, E. Mengel, and B. Schoser

36 Months Observational Clinical Study of 38 Adult Pompe Disease Patients under Alglucosidase Alfa Enzyme Replacement Therapy
J Inherit Metab Dis 35, no. 5 (Sep 2012): 837-45.
Link to the publication

Schanzer, A., A. K. Kaiser, C. Muhlfeld, M. Kulessa, W. Paulus, H. von Pein, M. Rohrbach, L. Viergutz, E. Mengel, T. Marquardt, B. Neubauer, T. Acker, and A. Hahn

Quantification of Muscle Pathology in Infantile Pompe Disease
Neuromuscul Disord 27, no. 2 (Feb 2017): 141-52.
Link to the publication

Schuller, A., C. Kornblum, M. Deschauer, M. Vorgerd, B. Schrank, E. Mengel, Z. Lukacs, D. Glaser, P. Young, U. Plockinger, and B. Schoser

Diagnosis and Therapy of Late Onset Pompe Disease
Nervenarzt 84, no. 12 (Dec 2013): 1467-72.
Link to the publication

Strothotte, S., N. Strigl-Pill, B. Grunert, C. Kornblum, K. Eger, C. Wessig, M. Deschauer, F. Breunig, F. X. Glocker, S. Vielhaber, A. Brejova, M. Hilz, K. Reiners, W. Muller-Felber, E. Mengel, M. Spranger, and B. Schoser

Enzyme Replacement Therapy with Alglucosidase Alfa in 44 Patients with Late-Onset Glycogen Storage Disease Type 2: 12-Month Results of an Observational Clinical Trial
J Neurol 257, no. 1 (Jan 2010): 91-7.
Link to the publication

van Capelle, C. I., J. C. van der Meijden, J. M. van den Hout, J. Jaeken, M. Baethmann, T. Voit, M. A. Kroos, T. G. Derks, M. E. Rubio-Gozalbo, M. A. Willemsen, R. H. Lachmann, E. Mengel, H. Michelakakis, J. C. de Jongste, A. J. Reuser, and A. T. van der Ploeg

Childhood Pompe Disease: Clinical Spectrum and Genotype in 31 Patients
Orphanet J Rare Dis 11, no. 1 (May 18 2016): 65.
Link to the publication

Müller-Forell W, Schulze Frenking G, Amraoui Y, Beck M.

Mucopolysaccharidosis (MPS) Clinical and Neuroradiological Aspects of the Different types
Clin Neuroradiol. 2007 Volume 17, Issue 3, pp 141–158.

Harmatz P1, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; Amraoui Y.

Endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI
Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. 2008. Mol Genet Metab 94: 469-475.

Braunlin E1, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P; Amraoui Y

Enzyme replacement therapy for mucopoysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®)
Therapy.2013. J Inherit Metab dis 36: 385-394.

Amraoui Y; Mengel E, Gerner P, baba HA, Beck M.

Cholesterinester- Speicher-krankheit. Seltene Erkrankungen oder häufig übersehen?
Pädiatrische Praxis. 2013/2014, pp81.

Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

Relative acidic compartment volume as a lysosomal storage disorder-associated Biomarker
J Clin Invest. 2014 Mar;124(3):1320-8.

Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM. 

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Orphanet J Rare Dis. 2015 Jun 6;10:70.

Borgwardt L, Lund AM, Amraoui Y, Andersen O, De Meirleir L, Dolhem P, Campos MG, Guffon N, Heron B, Laroche C, Marquardt T, Mengel E, Muschol N, Tylki-Szymanska A, Van den Hout JMH, Van Der Ploeg A, Welling L, Wijburg F, Cole D, Fogh J, Geraci S, Ardigo D, Cattaneo F.

Long-term enzyme replacement therapy with velmanase alfa slows disease progression in adult patients suffering from alpha-mannosidosis
Molecular Genetics and metabolism 120: S30-S30.

Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase treatment in patients with alpha-mannosidosis
J Inherit Metab Dis. 2018 Nov;41(6):1225-1233.

Borgwardt L, Guffon N, Amraoui Y, Dali CI, De Meirleir L, Gil-Campos M, Heron B, Geraci S, Ardigò D, Cattaneo F, Fogh J, Van den Hout JMH, Beck M, Jones SA, Tylki-Szymanska A, Haugsted U, Lund AM.

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
J Inherit Metab Dis. 2018 Nov;41(6):1215-1223.

Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S.

Retinal and optic nerve degeneration in α-mannosidosis
Orphanet J Rare Dis. 2018 Jun 1;13(1):88.

Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund.

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Mol Genet Metab Rep. 2020 Jun; 23: 100586.

McGovern, M. M., C. Dionisi-Vici, R. Giugliani, P. Hwu, O. Lidove, Z. Lukacs, K. Eugen Mengel, P. K. Mistry, E. H. Schuchman, and M. P. Wasserstein. 


Consensus Recommendation for a Diagnostic Guideline for Acid Sphingomyelinase DeficiencyGenet Med 19, no. 9 (Sep 2017)
Genet Med 19, no. 9 (Sep 2017): 967-74.
Link to the publication

Mengel, E., B. Bembi, M. Del Toro, F. Deodato, M. Gautschi, S. Grunewald, S. Gronborg, B. Heron, E. M. Maier, A. Roubertie, S. Santra, A. Tylki-Szymanska, S. Day, T. Symonds, S. Hudgens, M. C. Patterson, C. Guldberg, L. Ingemann, N. H. T. Petersen, T. Kirkegaard, and I. Dali C.

Clinical Disease Progression and Biomarkers in Niemann-Pick Disease Type C: A Prospective Cohort Study
Orphanet J Rare Dis 15, no. 1 (Nov 23 2020): 328.
Link to the publication

Patterson, M. C., E. Mengel, M. T. Vanier, P. Moneuse, D. Rosenberg, and M. Pineda

Treatment Outcomes Following Continuous Miglustat Therapy in Patients with Niemann-Pick Disease Type C: A Final Report of the Npc Registry
Orphanet J Rare Dis 15, no. 1 (Apr 25 2020): 104.
Link to the publication

Baldellou, A., G. Andria, P. E. Campbell, J. Charrow, I. J. Cohen, G. A. Grabowski, C. M. Harris, P. Kaplan, K. McHugh, E. Mengel, and A. Vellodi

Paediatric Non-Neuronopathic Gaucher Disease: Recommendations for Treatment and Monitoring
Eur J Pediatr 163, no. 2 (Feb 2004): 67-75.
Link to the publication

Beck, M., E. Mengel, and R. Barone

Enzyme Replacement Therapy: A New Treatment Concept in Gaucher Disease
Wien Klin Wochenschr 109, no. 3 (Feb 14 1997): 81-5.
Link to the publication

Belmatoug, N., A. Burlina, P. Giraldo, C. J. Hendriksz, D. J. Kuter, E. Mengel, and G. M. Pastores

Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients
J Inherit Metab Dis (Jul 21 2011).
Link to the publication

Bembi, B., G. Ciana, E. Mengel, M. R. Terk, C. Martini, and R. J. Wenstrup.

Bone Complications in Children with Gaucher Disease
Br J Radiol 75 Suppl 1 (2002): A37-44.
Link to the publication

Biegstraaten, M., T. M. Cox, N. Belmatoug, M. G. Berger, T. Collin-Histed, S. Vom Dahl, M. Di Rocco, C. Fraga, F. Giona, P. Giraldo, M. Hasanhodzic, D. A. Hughes, P. O. Iversen, A. I. Kiewiet, E. Lukina, M. Machaczka, T. Marinakis, E. Mengel, G. M. Pastores, U. Plockinger, H. Rosenbaum, C. Serratrice, A. Symeonidis, J. Szer, J. Timmerman, A. Tylki-Szymanska, M. Weisz Hubshman, D. I. Zafeiriou, A. Zimran, and C. E. M. Hollak.

Management Goals for Type 1 Gaucher Disease: An Expert Consensus Document from the European Working Group on Gaucher Disease
Blood Cells Mol Dis 68 (Feb 2018): 203-08.
Link to the publication

Biegstraaten, M., E. Mengel, L. Marodi, M. Petakov, C. Niederau, P. Giraldo, D. Hughes, M. Mrsic, A. Mehta, C. E. Hollak, and I. N. van Schaik.

Peripheral Neuropathy in Adult Type 1 Gaucher Disease: A 2-Year Prospective Observational Study
Brain 133, no. 10 (Oct 2010): 2909-19.
Link to the publication

Biegstraaten, M., K. A. Wesnes, C. Luzy, M. Petakov, M. Mrsic, C. Niederau, P. Giraldo, D. Hughes, A. Mehta, K. E. Mengel, C. E. Hollak, L. Marodi, and I. N. van Schaik

The Cognitive Profile of Type 1 Gaucher Disease Patients
J Inherit Metab Dis (Feb 21 2012).
Link to the publication

Bremova-Ertl, T., R. Schiffmann, M. C. Patterson, N. Belmatoug, T. Billette de Villemeur, S. Bardins, C. Frenzel, V. Malinova, S. Naumann, J. Arndt, E. Mengel, J. Reinke, R. Strobl, and M. Strupp.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
Front Neurol 8 (2017): 711.
Link to the publication

Davies, E. H., A. Erikson, T. Collin-Histed, E. Mengel, A. Tylki-Szymanska, and A. Vellodi.

Outcome of Type Iii Gaucher Disease on Enzyme Replacement Therapy: Review of 55 Cases
J Inherit Metab Dis 30, no. 6 (Nov 2007): 935-42.
Link to the publication

Davies, E. H., E. Mengel, A. Tylki-Szymanska, G. Kleinotiene, J. Reinke, and A. Vellodi.

Four-Year Follow-up of Chronic Neuronopathic Gaucher Disease in Europeans Using a Modified Severity Scoring Tool
J Inherit Metab Dis (May 28 2011).
Link to the publication

Garbade, S. F., M. Zielonka, K. Mechler, S. Kolker, G. F. Hoffmann, C. Staufner, E. Mengel, and M. Ries.

Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis
PLoS One 15, no. 4 (2020): e0230898.
Link to the publication

Granovsky-Grisaru, S., N. Belmatoug, S. vom Dahl, E. Mengel, E. Morris, and A. Zimran

The Management of Pregnancy in Gaucher Disease
Eur J Obstet Gynecol Reprod Biol 156, no. 1 (May 2011): 3-8.
Link to the publication

Hollak, C. E., S. vom Dahl, J. M. Aerts, N. Belmatoug, B. Bembi, Y. Cohen, T. Collin-Histed, P. Deegan, L. van Dussen, P. Giraldo, E. Mengel, H. Michelakakis, J. Manuel, M. Hrebicek, R. Parini, J. Reinke, M. di Rocco, M. Pocovi, M. C. Sa Miranda, A. Tylki-Szymanska, A. Zimran, and T. M. Cox.

Force Majeure: Therapeutic Measures in Response to Restricted Supply of Imiglucerase (Cerezyme) for Patients with Gaucher Disease
Blood Cells Mol Dis 44, no. 1 (Jan 15 2010): 41-7.
Link to the publication

Hopf, S., N. Pfeiffer, M. Liesenfeld, K. E. Mengel, J. B. Hennermann, I. Schmidtmann, and S. Pitz.

A Comprehensive Monocentric Ophthalmic Study with Gaucher Disease Type 3 Patients: Vitreoretinal Lesions, Retinal Atrophy and Characterization of Abnormal Saccades
Orphanet J Rare Dis 14, no. 1 (Nov 14 2019): 257.
Link to the publication

Jansen, T., E. Mengel, M. Beck, and S. Grabbe.

Morbus Gaucher: Eine Stoffwechselstörung Mit Typischer, Kutaner Manifestation
Der Deutsche Dermatologe, no. 3 (2006).

Laudemann, K., L. Moos, E. Mengel, A. Lollert, C. Hoffmann, M. Brixius-Huth, D. Wagner, C. Duber, and G. Staatz.

Evaluation of Treatment Response to Enzyme Replacement Therapy with Velaglucerase Alfa in Patients with Gaucher Disease Using Whole-Body Magnetic Resonance Imaging
Blood Cells Mol Dis 57 (Mar 2016): 35-41.
Link to the publication

Laudemann, K., L. Moos, K. E. Mengel, A. Lollert, J. Reinke, M. Brixius-Huth, D. Wagner, C. Duber, and G. Staatz.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body Mri - a Retrospective Data Analysis
Rofo (Jul 22 2015)
Link to the publication

Lollert, A., K. Laudemann, E. Mengel, C. Hoffmann, L. Moos, J. Reinke, M. Brixius-Huth, J. B. Hennermann, C. Duber, and G. Staatz.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1
Klin Padiatr 231, no. 2 (Mar 2019): 52-59.
Link to the publication

Manger, B., E. Mengel, and R. M. Schaefer.

Rheumatologic Aspects of Lysosomal Storage Diseases
Clin Rheumatol 26, no. 3 (Mar 2007): 335-41.
Link to the publication

Manger, B., E. Mengel, R. M. Schaefer, C. Haase, J. Seidel, and H. Michels.

Gaucher Disease, Fabry Disease and Mucopolysaccharidosis Type I - How Can the Rheumatologist Recognise These Patients?
Z Rheumatol (Dec 22 2005).
Link to the publication

Mehta, A., N. Belmatoug, B. Bembi, P. Deegan, D. Elstein, O. Goker-Alpan, E. Lukina, E. Mengel, K. Nakamura, G. M. Pastores, J. P. Lopez, I. Schwartz, C. Serratrice, J. Szer, A. Zimran, M. Di Rocco, Z. Panahloo, D. J. Kuter, and D. Hughes

Exploring the Patient Journey to Diagnosis of Gaucher Disease from the Perspective of 212 Patients with Gaucher Disease and 16 Gaucher Expert Physicians
Mol Genet Metab (Aug 04 2017).
Link to the publication

Mehta, A., D. J. Kuter, S. S. Salek, N. Belmatoug, B. Bembi, J. Bright, S. Vom Dahl, F. Deodato, M. Di Rocco, O. Goker-Alpan, D. A. Hughes, E. A. Lukina, M. Machaczka, E. Mengel, A. Nagral, K. Nakamura, A. Narita, B. Oliveri, G. Pastores, J. Perez-Lopez, U. Ramaswami, I. V. Schwartz, J. Szer, N. J. Weinreb, and A. Zimran.

Presenting Signs and Patient Co-Variables in Gaucher Disease: Outcome of the Gaucher Earlier Diagnosis Consensus (Ged-C) Delphi Initiative
Intern Med J 49, no. 5 (May 2019): 578-91.
Link to the publication

Meikle, P. J., P. D. Whitfield, T. Rozaklis, D. Blacklock, S. Duplock, D. Elstein, A. Zimran, E. Mengel, P. Cannell, J. J. Hopwood, and M. Fuller.

Plasma Lipids Are Altered in Gaucher Disease: Biochemical Markers to Evaluate Therapeutic Intervention
Blood Cells Mol Dis 40, no. 3 (May-Jun 2008): 420-7.
Link to the publication

Michels, H. , E. Mengel, H. I. Huppertz, and R. M. Schaefer.

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry
Monatszeitschrift Kinderheilkunde 154, no. 4 (2006): 297-394.

Michels, H. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnoses to Rheumatic Disorders
Curr Opin Rheumatol 20, no. 1 (Jan 2008): 76-81.
Link to the publication

Pastores, G. M., M. Petakov, P. Giraldo, H. Rosenbaum, J. Szer, P. B. Deegan, D. J. Amato, E. Mengel, E. S. Tan, R. Chertkoff, E. Brill-Almon, and A. Zimran.

A Phase 3, Multicenter, Open-Label, Switchover Trial to Assess the Safety and Efficacy of Taliglucerase Alfa, a Plant Cell-Expressed Recombinant Human Glucocerebrosidase, in Adult and Pediatric Patients with Gaucher Disease Previously Treated with Imigluc
Blood Cells Mol Dis (Jun 17 2014).
Link to the publication

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel.

Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
Link to the publication

Schiffmann, R., J. Sevigny, A. Rolfs, E. H. Davies, O. Goker-Alpan, M. Abdelwahab, A. Vellodi, E. Mengel, E. Lukina, H. W. Yoo, T. Collin-Histed, A. Narita, T. Dinur, S. Revel-Vilk, D. Arkadir, J. Szer, M. Wajnrajch, U. Ramaswami, E. Sidransky, A. Donald, and A. Zimran.

The Definition of Neuronopathic Gaucher Disease
J Inherit Metab Dis (Apr 3 2020).
Link to the publication

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Link to the publication

Vellodi, A., B. Bembi, T. B. de Villemeur, T. Collin-Histed, A. Erikson, E. Mengel, A. Rolfs, and A. Tylki-Szymanska.

Management of Neuronopathic Gaucher Disease: A European Consensus
J Inherit Metab Dis 24, no. 3 (Jun 2001): 319-27.
Link to the publication

Vellodi, A., A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, and R. Schiffmann.

Management of Neuronopathic Gaucher Disease: Revised Recommendations
J Inherit Metab Dis 32, no. 5 (Oct 2009): 660-4.
Link to the publication

Vom Dahl, S. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Link to the publication

Wendt, S., E. Mengel, and M. Beck.

Gaucher Disease and Miscellaneous
Acta Paediatr Suppl 95, no. 451 (Apr 2006): 139-44.
Link to the publication

Yildiz, Y., P. Hoffmann, S. Vom Dahl, B. Breiden, R. Sandhoff, C. Niederau, M. Horwitz, S. Karlsson, M. Filacamo, D. Elstein, M. Beck, K. Sandhoff, E. Mengel, M. C. Gonzalez, M. M. Nothen, E. Sidransky, A. Zimran, and M. Mattheisen.

Functional and Genetic Characterization of the Non-Lysosomal Glucosylceramidase 2 as a Modifier for Gaucher Disease
Orphanet J Rare Dis 8, no. 1 (Sep 26 2013): 151.
Link to the publication

Zimran, A., E. Morris, E. Mengel, P. Kaplan, N. Belmatoug, D. A. Hughes, V. Malinova, R. Heitner, E. Sobreira, M. Mrsic, S. Granovsky-Grisaru, D. Amato, and S. Vom Dahl.

The Female Gaucher Patient: The Impact of Enzyme Replacement Therapy around Key Reproductive Events (Menstruation, Pregnancy and Menopause)
Blood Cells Mol Dis (Jun 5 2009).
Link to the publication

Amraoui, Y., E. Mengel, P. Gerner, H.A. Baba, and M. Beck.

Cholesterinester-Speicherkrankheit - Seltene Erkrankung Oder Häufig Übersehen?
Pädiatrische Praxis 81 (2013): 99-105.

Burton, B. K., M. Balwani, F. Feillet, I. Baric, T. A. Burrow, C. Camarena Grande, M. Coker, A. Consuelo-Sanchez, P. Deegan, M. Di Rocco, G. M. Enns, R. Erbe, F. Ezgu, C. Ficicioglu, K. N. Furuya, J. Kane, C. Laukaitis, E. Mengel, E. G. Neilan, S. Nightingale, H. Peters, M. Scarpa, K. O. Schwab, V. Smolka, V. Valayannopoulos, M. Wood, Z. Goodman, Y. Yang, S. Eckert, S. Rojas-Caro, and A. G. Quinn.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
N Engl J Med 373, no. 11 (Sep 10 2015): 1010-20.
Link to the publication

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Link to the publication

De Ru, M. H., J. J. Boelens, A. M. Das, S. A. Jones, J. H. van der Lee, N. Mahlaoui, E. Mengel, M. Offringa, A. O'Meara, R. Parini, A. Rovelli, K. W. Sykora, V. Valayannopoulos, A. Vellodi, R. F. Wynn, and F. A. Wijburg.

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at Diagnosis in Patients with Mucopolysaccharidosis Type I: Results of a European Consensus Procedure
Orphanet J Rare Dis 6 (2011): 55.
Link to the publication

Eisengart, J. B., K. D. Rudser, Y. Xue, P. Orchard, W. Miller, T. Lund, A. Van der Ploeg, J. Mercer, S. Jones, K. E. Mengel, S. Gokce, N. Guffon, R. Giugliani, C. F. M. de Souza, E. G. Shapiro, and C. B. Whitley.

Long-Term Outcomes of Systemic Therapies for Hurler Syndrome: An International Multicenter Comparison
Genet Med (Mar 8 2018).
Link to the publication

Garbade, S. F., M. Zielonka, K. Mechler, S. Kolker, G. F. Hoffmann, C. Staufner, E. Mengel, and M. Ries.

Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis
PLoS One 15, no. 4 (2020): e0230898.
Link to the publication

Harmatz, P., K. E. Mengel, R. Giugliani, V. Valayannopoulos, S. P. Lin, R. Parini, N. Guffon, B. K. Burton, C. J. Hendriksz, J. Mitchell, A. Martins, S. Jones, N. Guelbert, A. Vellodi, C. Hollak, P. Slasor, and C. Decker.

The Morquio a Clinical Assessment Program: Baseline Results Illustrating Progressive, Multisystemic Clinical Impairments in Morquio a Subjects
Mol Genet Metab 109, no. 1 (May 2013): 54-61.
Link to the publication

Harmatz, P. R., E. Mengel, T. Geberhiwot, N. Muschol, C. J. Hendriksz, B. K. Burton, E. Jameson, K. I. Berger, A. Jester, M. Treadwell, Z. Sisic, and C. Decker.

Impact of Elosulfase Alfa in Patients with Morquio a Syndrome Who Have Limited Ambulation: An Open-Label, Phase 2 Study
Am J Med Genet A 173, no. 2 (Feb 2017): 375-83.
Link to the publication

Harmatz, P. R., K. E. Mengel, R. Giugliani, V. Valayannopoulos, S. P. Lin, R. Parini, N. Guffon, B. K. Burton, C. J. Hendriksz, J. J. Mitchell, A. M. Martins, S. A. Jones, N. Guelbert, A. Vellodi, F. A. Wijburg, K. Yang, P. Slasor, and C. Decker.

Longitudinal Analysis of Endurance and Respiratory Function from a Natural History Study of Morquio a Syndrome
Mol Genet Metab 114, no. 2 (Feb 2015): 186-94.
Link to the publication

Hendriksz, C. J., B. Burton, T. R. Fleming, P. Harmatz, D. Hughes, S. A. Jones, S. P. Lin, E. Mengel, M. Scarpa, V. Valayannopoulos, R. Giugliani, Strive Investigators, P. Slasor, D. Lounsbury, and W. Dummer.

Efficacy and Safety of Enzyme Replacement Therapy with Bmn 110 (Elosulfase Alfa) for Morquio a Syndrome (Mucopolysaccharidosis Iva): A Phase 3 Randomised Placebo-Controlled Study
J Inherit Metab Dis (May 9 2014).
Link to the publication

Hendriksz, C. J., R. Giugliani, P. Harmatz, E. Mengel, N. Guffon, V. Valayannopoulos, R. Parini, D. Hughes, G. M. Pastores, H. A. Lau, M. D. Al-Sayed, J. Raiman, Strive Investigators, K. Yang, M. Mealiffe, and C. Haller.

Multi-Domain Impact of Elosufase Alfa in Morquio a Syndrome in the Pivotal Phase Iii Trial
Mol Genet Metab 114, no. 2 (Feb 2015): 178-85.
Link to the publication

Hennermann, J. B., S. Gokce, A. Solyom, E. Mengel, E. H. Schuchman, and C. M. Simonaro.

Treatment with Pentosan Polysulphate in Patients with Mps I: Results from an Open Label, Randomized, Monocentric Phase Ii Study
J Inherit Metab Dis 39, no. 6 (Nov 2016): 831-37.
Link to the publication

Hughes, D., R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, and A. Quartel.

Clinical Outcomes in a Subpopulation of Adults with Morquio a Syndrome: Results from a Long-Term Extension Study of Elosulfase Alfa
Orphanet J Rare Dis 12, no. 1 (May 23 2017): 98.
Link to the publication

Kampmann, C., T. Abu-Tair, S. Gokce, C. Lampe, J. Reinke, E. Mengel, J. B. Hennermann, and C. M. Wiethoff.

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type Iva (Morquio-a Syndrome)
PLoS One 11, no. 9 (2016): e0162612.
Link to the publication

Kampmann, C., C. Lampe, C. Whybra-Trumpler, C. M. Wiethoff, E. Mengel, L. Arash, M. Beck, and E. Miebach.

Mucopolysaccharidosis Vi: Cardiac Involvement and the Impact of Enzyme Replacement Therapy
J Inherit Metab Dis 37, no. 2 (Mar 2014): 269-76.
Link to the publication

Kampmann, C., C. M. Wiethoff, R. G. Huth, G. Staatz, E. Mengel, M. Beck, S. Gehring, T. Mewes, and T. Abu-Tair.

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses
JIMD Rep 33 (2017): 33-39.
Link to the publication

Lampe, C., C. Lampe, M. Schwarz, W. Muller-Forell, P. Harmatz, and E. Mengel. 

Craniocervical Decompression in Patients with Mucopolysaccharidosis Vi: Development of a Scoring System to Determine Indication and Outcome of Surgery
J Inherit Metab Dis (Feb 14 2013).
Link to the publication

Mendelson, D. S., M. P. Wasserstein, R. J. Desnick, R. Glass, W. Simpson, G. Skloot, M. Vanier, B. Bembi, R. Giugliani, E. Mengel, G. F. Cox, and M. M. McGovern.

Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section Ct, and Pulmonary Function Testing
Radiology 238, no. 1 (Jan 2006): 339-45.
Link to the publication

Michels, H. , E. Mengel, H. I. Huppertz, and R. M. Schaefer.

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry
Monatszeitschrift Kinderheilkunde 154, no. 4 (2006): 297-394.

Thumler, A., E. Miebach, C. Lampe, S. Pitz, W. Kamin, C. Kampmann, B. Link, and E. Mengel.

Clinical Characteristics of Adults with Slowly Progressing Mucopolysaccharidosis Vi: A Case Series
J Inherit Metab Dis (Mar 23 2012).
Link to the publication

Whybra, C., E. Mengel, A. Russo, F. Bahlmann, C. Kampmann, M. Beck, E. Eich, and E. Mildenberger.

Lysosomal Storage Disorder in Non-Immunological Hydrops Fetalis (Nihf): More Common Than Assumed? Report of Four Cases with Transient Nihf and a Review of the Literature
Orphanet J Rare Dis 7 (2012): 86.
Link to the publication

Niemann, S., M. Beck, G. Seidel, J. Spranger, and P. Vieregge

Neurology of Adult Alpha-Mannosidosis
J Neurol Neurosurg Psychiatry 61, no. 1 (Jul 1996): 116-7.
Link to the publication

Borgwardt, L., C. I. Dali, J. Fogh, J. E. Mansson, K. J. Olsen, H. C. Beck, K. G. Nielsen, L. H. Nielsen, S. O. Olsen, H. M. Riise Stensland, O. Nilssen, F. Wibrand, A. M. Thuesen, T. Pearl, U. Haugsted, P. Saftig, J. Blanz, S. A. Jones, A. Tylki-Szymanska, N. Guffon-Fouiloux, M. Beck, and A. M. Lund

Enzyme Replacement Therapy for Alpha-Mannosidosis: 12 Months Follow-up of a Single Centre, Randomised, Multiple Dose Study
J Inherit Metab Dis 36, no. 6 (Nov 2013): 1015-24
Link to the publication

Beck, M., K. J. Olsen, J. E. Wraith, J. Zeman, J. C. Michalski, P. Saftig, J. Fogh, and D. Malm

Natural History of Alpha Mannosidosis a Longitudinal Study
Orphanet J Rare Dis 8, no. 1 (Jun 20 2013): 88.
Link to the publication

Hofer, D., K. Paul, K. Fantur, M. Beck, A. Roubergue, A. Vellodi, B. J. Poorthuis, H. Michelakakis, B. Plecko, and E. Paschke

Phenotype Determining Alleles in Gm1 Gangliosidosis Patients Bearing Novel Glb1 Mutations
Clin Genet 78, no. 3 (Sep 2010): 236-46.
Link to the publication

Caliskan, M., M. Ozmen, M. Beck, and S. Apak

Thalamic Hyperdensity - Is It a Diagnostic Marker for Sandhoff Disease?
Brain Dev 15, no. 5 (Sep-Oct 1993): 387-8.
Link to the publication

Beck, M., N. Sieber, and H. H. Goebel

Progressive Cerebellar Ataxia in Juvenile Gm2-Gangliosidosis Type Sandhoff
Eur J Pediatr 157, no. 10 (Oct 1998): 866-7.
Link to the publication

Beck, M., E. R. Valadares, and J. Lotz

Gaucher's Disease: Therapy by Intravenous Infusions of Modified Glucocerebrosidase
Clin Investig 71, no. 1 (Jan 1993): 78. http://dx.doi.org/10.1007/BF00210974.

le Coutre, P., A. Demina, E. Beutler, M. Beck, and P. E. Petrides

Molecular Analysis of Gaucher Disease: Distribution of Eight Mutations and the Complete Gene Deletion in 27 Patients from Germany
Hum Genet 99, no. 6 (Jun 1997): 816-21. http://dx.doi.org/10.1007/s004390050454.

Cox, T. M., J. M. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. Miranda, A. Zimran, and Disease Advisory Council to the European Working Group on Gaucher

The Role of the Iminosugar N-Butyldeoxynojirimycin (Miglustat) in the Management of Type I (Non-Neuronopathic) Gaucher Disease: A Position Statement
J Inherit Metab Dis 26, no. 6 (2003): 513-26.
Link to the publication

Mengel, E., M. Beck, A. M. Das, F. Ebinger, S. Koch, H. H. Klünemann, M. Rohrbach, H. Runz, F. Rutsch, and G. C. Korenke

Morbus Niemann-Pick Typ C
Monatsschrift Kinderheilkunde 160, no. 1 (2011): 47-54.
Link to the publication

Beck, M.

Alglucosidase Alfa: Long Term Use in the Treatment of Patients with Pompe Disease
Ther Clin Risk Manag 5 (2009): 767-72.
Link to the publication

Kishnani, P. S., D. Corzo, N. D. Leslie, D. Gruskin, A. Van der Ploeg, J. P. Clancy, R. Parini, G. Morin, M. Beck, M. S. Bauer, M. Jokic, C. E. Tsai, B. W. Tsai, C. Morgan, T. O'Meara, S. Richards, E. C. Tsao, and H. Mandel

Early Treatment with Alglucosidase Alpha Prolongs Long-Term Survival of Infants with Pompe Disease
Pediatr Res 66, no. 3 (Sep 2009): 329-35.
Link to the publication

Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, J. Levine, C. Spencer, M. McDonald, J. Li, J. Dumontier, M. Halberthal, Y. H. Chien, R. Hopkin, S. Vijayaraghavan, D. Gruskin, D. Bartholomew, A. van der Ploeg, J. P. Clancy, R. Parini, G. Morin, M. Beck, G. S. De la Gastine, M. Jokic, B. Thurberg, S. Richards, D. Bali, M. Davison, M. A. Worden, Y. T. Chen, and J. E. Wraith

Recombinant Human Acid Alpha-Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease
Neurology 68, no. 2 (Jan 9 2007): 99-109.
Link to the publication

Beck.M, C.Whybra, and J.Kriegsmann

Morbus Fabry - Aktuelle Therapeutische Perspektiven
Dtsch Ärztebl 98;A, no. 8 (2001): 466-8

Beck, M., C. Whybra, K. Wendrich, A. Gal, and M. Ries

Anderson-Fabry Disease in Children and Adolescents
Contrib Nephrol, no. 136 (2001): 251-5.
Link to the publication

Ries, M., K. Wendrich, C. Whybra, C. Kampmann, A. Gal, and M. Beck

Angiokeratoma and Pain, but Not Fabry's Disease: Considerations for Differential Diagnosis
Contrib Nephrol, no. 136 (2001): 256-9
Link to the publication

Wendrich, K., C. Whybra, M. Ries, A. Gal, and M. Beck

Neurological Manifestation of Fabry Disease in Females
Contrib Nephrol, no. 136 (2001): 241-4
Link to the publication

Whybra, C., C. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Bruhl, A. Gal, S. Bunge, and M. Beck

Anderson-Fabry Disease: Clinical Manifestations of Disease in Female Heterozygotes
J Inherit Metab Dis 24, no. 7 (Dec 2001): 715-24.
Link to the publication

Whybra, C., K. Wendrich, M. Ries, A. Gal, and M. Beck

Clinical Manifestation in Female Fabry Disease Patients
Contrib Nephrol, no. 136 (2001): 245-50.
Link to the publication

Beck, M

Agalsidase Alfa--a Preparation for Enzyme Replacement Therapy in Anderson-Fabry Disease
Expert opinion on investigational drugs 11, no. 6 (Jun 2002): 851-8.
Link to the publication

Kampmann, C., F. Baehner, M. Ries, and M. Beck

Cardiac Involvement in Anderson-Fabry Disease
J Am Soc Nephrol 13 Suppl 2 (Jun 2002): S147-9.
Link to the publication

Kampmann, C., F. Baehner, C. Whybra, C. Martin, C. M. Wiethoff, M. Ries, A. Gal, and M. Beck

Cardiac Manifestations of Anderson-Fabry Disease in Heterozygous Females
Journal of the American College of Cardiology 40, no. 9 (Nov 6 2002): 1668-74.
Link to the publication

Kampmann, Ch., M. Ries, F. Baehner, K.S. Kim, M. Bajbouj, and M. Beck

nfluence of Enzyme Replacement Therapy (Ert) on Anderson Fabry Disease Associated Hypertrophic Infiltrative Cardiomyopathy (Hic)
Eur J Pediatr 161 (2002): R5.

Kampmann, C., C. Whybra, F. Baehner, and M. Beck

Enzyme Replacement Therapy in Anderson-Fabry Cardiomyopathy
Heart Metab. 18 (2002): 39-41.

Kampmann, C., C. M. Wiethoff, A. Perrot, M. Beck, R. Dietz, and K. J. Osterziel

The Heart in Anderson Fabry Disease
Z Kardiol 91, no. 10 (Oct 2002): 786-95.
Link to the publication

Perrot, A., K. J. Osterziel, M. Beck, R. Dietz, and C. Kampmann

Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms
Herz 27, no. 7 (Nov 2002): 699-702.
Link to the publication

Baehner, F., C. Kampmann, C. Whybra, E. Miebach, C. M. Wiethoff, and M. Beck

Enzyme Replacement Therapy in Heterozygous Females with Fabry Disease: Results of a Phase Iiib Study
J Inherit Metab Dis 26, no. 7 (2003): 617-27.
Link to the publication

Beck, M.

Fabry Disease: New Clinical Research--Current Therapeutic Perspectives
Wien Klin Wochenschr 115, no. 7-8 (Apr 30 2003): 215-7.
Link to the publication

Beck, M.

Fabry Disease - a Progressive Multisystemic Lysosomal Storage Disorder
In Metabolic Cardiomyopathy, edited by H. Böhles and A. C. Sewell, 123 - 27. Stuttgart: medpharm, 2004.

Beck, M., R. Ricci, U. Widmer, F. Dehout, A. G. de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, G. Houge, U. Ramaswami, A. Gal, and A. Mehta

Fabry Disease: Overall Effects of Agalsidase Alfa Treatment
Eur J Clin Invest 34, no. 12 (Dec 2004): 838-44.
Link to the publication

Mehta, A., R. Ricci, U. Widmer, F. Dehout, A. Garcia de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, M. Ries, and M. Beck

Fabry Disease Defined: Baseline Clinical Manifestations of 366 Patients in the Fabry Outcome Survey
Eur J Clin Invest 34, no. 3 (Mar 2004): 236-42.
Link to the publication

Whybra, C., C. Kampmann, F. Krummenauer, M. Ries, E. Mengel, E. Miebach, F. Baehner, K. Kim, M. Bajbouj, A. Schwarting, A. Gal, and M. Beck

The Mainz Severity Score Index: A New Instrument for Quantifying the Anderson-Fabry Disease Phenotype, and the Response of Patients to Enzyme Replacement Therapy
Clin Genet 65, no. 4 (Apr 2004): 299-307.
Link to the publication

Fellgiebel, A., M. J. Muller, M. Mazanek, K. Baron, M. Beck, and P. Stoeter

White Matter Lesion Severity in Male and Female Patients with Fabry Disease
Neurology 65, no. 4 (Aug 23 2005): 600-2.
Link to the publication

Hoffmann, B., A. Garcia de Lorenzo, A. Mehta, M. Beck, U. Widmer, R. Ricci, and F. O. S. European Investigators

Effects of Enzyme Replacement Therapy on Pain and Health Related Quality of Life in Patients with Fabry Disease: Data from Fos (Fabry Outcome Survey)
J Med Genet 42, no. 3 (Mar 2005): 247-52.
Link to the publication

Kampmann, C., F. A. Baehner, C. Whybra, M. Bajbouj, K. Baron, M. Knuf, C. M. Wiethoff, H. Trubel, and M. Beck.

The Right Ventricle in Fabry Disease
Acta Paediatr Suppl 94, no. 447 (Mar 2005): 15-8; discussion 9-10.
Link to the publication

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
Link to the publication

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
Link to the publication

ukacs, Z., A. Keil, A. Kohlschutter, M. Beck, and E. Mengel.

The Ratio of Alpha-Galactosidase to Beta-Glucuronidase Activities in Dried Blood for the Identification of Female Fabry Disease Patients
J Inherit Metab Dis 28, no. 5 (2005): 803-5.
Link to the publication

Muller, M. J., K. M. Muller, A. Dascalescu, C. Whybra, K. Baron, A. Scheurich, K. Mann, M. Beck, L. G. Schmidt, and A. Fellgiebel.

Psychiatrische Und Neuropsychologische Auffälligkeiten Bei Patienten Mit Morbus Fabry: Literaturübersicht
Fortschr Neurol Psychiatr 73, no. 11 (Nov 2005): 687-93.
Link to the publication

Schafer, E., K. Baron, U. Widmer, P. Deegan, H. P. Neumann, G. Sunder-Plassmann, J. O. Johansson, C. Whybra, M. Ries, G. M. Pastores, A. Mehta, M. Beck, and A. Gal.

Thirty-Four Novel Mutations of the Gla Gene in 121 Patients with Fabry Disease
Hum Mutat 25, no. 4 (Apr 2005): 412.
Link to the publication

Wendt, S., C. Whybra, C. Kampmann, E. Teichmann, and M. Beck.

Successful Pregnancy Outcome in a Patient with Fabry Disease Receiving Enzyme Replacement Therapy with Agalsidase Alfa
J Inherit Metab Dis 28, no. 5 (Jan 2005): 787-8.
Link to the publication

Deegan, P. B., A. F. Baehner, M. A. Barba Romero, D. A. Hughes, C. Kampmann, M. Beck, and F. O. S. Investigators European.

Natural History of Fabry Disease in Females in the Fabry Outcome Survey
J Med Genet 43, no. 4 (Apr 2006): 347-52.
Link to the publication

Fellgiebel, A., M. Mazanek, C. Whybra, M. Beck, R. Hartung, K. M. Muller, A. Scheurich, P. R. Dellani, P. Stoeter, and M. J. Muller-

Pattern of Microstructural Brain Tissue Alterations in Fabry Disease : A Diffusion-Tensor Imaging Study
J Neurol 253, no. 6 (Jun 2006): 780-7.
Link to the publication

Hajioff, D., S. Hegemann, G. Conti, M. Beck, G. Sunder-Plassmann, U. Widmer, A. Mehta, and A. Keilmann.

Agalsidase Alpha and Hearing in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 663-7.
Link to the publication

Hegemann, S., D. Hajioff, G. Conti, M. Beck, G. Sunder-Plassmann, U. Widmer, A. Mehta, and A. Keilmann.

Hearing Loss in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 654-62.
Link to the publication

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Prevalence of Uncontrolled Hypertension in Patients with Fabry Disease
Am J Hypertens 19, no. 8 (Aug 2006): 782-7.
Link to the publication

Lidove, O., U. Ramaswami, R. Jaussaud, F. Barbey, T. Maisonobe, C. Caillaud, M. Beck, G. Sunder-Plassmann, A. Linhart, A. Mehta, and F. O. S. European investigators.

Hyperhidrosis: A New and Often Early Symptom in Fabry Disease. International Experience and Data from the Fabry Outcome Survey
Int J Clin Pract 60, no. 9 (Sep 2006): 1053-9.
Link to the publication

Muller, M. J., A. Fellgiebel, A. Scheurich, C. Whybra, M. Beck, and K. M. Muller.

Recurrent Brief Depression in a Female Patient with Fabry Disease
Bipolar Disord 8, no. 4 (Aug 2006): 418-9.
Link to the publication

Nill, M., M. J. Muller, M. Beck, P. Stoeter, and A. Fellgiebel.

Pathophysiological Aspects of Brain Structural Disturbances in Patients with Fabry Disease: Literature Review
Fortschr Neurol Psychiatr 74, no. 12 (Dec 2006): 687-95.
Link to the publication

Ramaswami, U., C. Whybra, R. Parini, G. Pintos-Morell, A. Mehta, G. Sunder-Plassmann, U. Widmer, M. Beck, and F. O. S. European Investigators.

Clinical Manifestations of Fabry Disease in Children: Data from the Fabry Outcome Survey
Acta Paediatr 95, no. 1 (Jan 2006): 86-92.
Link to the publication

Ries, M., J. T. Clarke, C. Whybra, M. Timmons, C. Robinson, B. L. Schlaggar, G. Pastores, Y. H. Lien, C. Kampmann, R. O. Brady, M. Beck, and R. Schiffmann-

Enzyme-Replacement Therapy with Agalsidase Alfa in Children with Fabry Disease
Pediatrics 118, no. 3 (Sep 2006): 924-32.
Link to the publication

Safyan, R., C. Whybra, M. Beck, D. Elstein, and G. Altarescu

An Association Study of Inflammatory Cytokine Gene Polymorphisms in Fabry Disease
Eur Cytokine Netw 17, no. 4 (Dec 2006): 271-5.
Link to the publication

Schwarting, A., F. Dehout, S. Feriozzi, M. Beck, A. Mehta, G. Sunder-Plassmann, and F. O. S. Investigators European.

Enzyme Replacement Therapy and Renal Function in 201 Patients with Fabry Disease
Clin Nephrol 66, no. 2 (Aug 2006): 77-84.
Link to the publication

Whybra, C., A. Schwarting, J. Kriegsmann, A. Gal, E. Mengel, C. Kampmann, F. Baehner, E. Schaefer, and M. Beck.

Iga Nephropathy in Two Adolescent Sisters Heterozygous for Fabry Disease
Pediatr Nephrol 21, no. 9 (Sep 2006): 1251-6.
Link to the publication

Albrecht, J., P. R. Dellani, M. J. Muller, I. Schermuly, M. Beck, P. Stoeter, A. Gerhard, and A. Fellgiebel.

Voxel Based Analyses of Diffusion Tensor Imaging in Fabry Disease
J Neurol Neurosurg Psychiatry 78, no. 9 (Sep 2007): 964-9.
Link to the publication

Beck, M.

New Therapeutic Options for Lysosomal Storage Disorders: Enzyme Replacement, Small Molecules and Gene Therapy
Hum Genet 121, no. 1 (Mar 2007): 1-22.
Link to the publication

Cybulla, M., K. Walter, H. P. Neumann, U. Widmer, M. Scharer, G. Sunder-Plassmann, T. Jansen, A. Rolfs, and M. Beck.

Fabry Disease: Demographic Data since Introduction of Enzyme Replacement Therapy
Dtsch Med Wochenschr 132, no. 28-29 (Jul 5 2007): 1505-9.
Link to the publication

Hoffmann, B., M. Beck, G. Sunder-Plassmann, W. Borsini, R. Ricci, A. Mehta, and F. O. S. European Investigators

Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy--a Retrospective Analysis from the Fabry Outcome Survey
Clin J Pain 23, no. 6 (Jul-Aug 2007): 535-42.
Link to the publication

imberger, A., M. Beck, S. Delgado-Sanchez, and A. Keilmann.

Hearing Loss in Patients with Fabry Disease
HNO 55, no. 3 (Mar 2007): 185-89.
Link to the publication

Linhart, A., C. Kampmann, J. L. Zamorano, G. Sunder-Plassmann, M. Beck, A. Mehta, P. M. Elliott, and F. O. S. Investigators European.

Cardiac Manifestations of Anderson-Fabry Disease: Results from the International Fabry Outcome Survey
Eur Heart J 28, no. 10 (May 2007): 1228-35.
Link to the publication

Lukacs, Z., R. Hartung, M. Beck, A. Keil, and E. Mengel.

Direct Comparison of Enzyme Measurements from Dried Blood and Leukocytes from Male and Female Fabry Disease Patients
J Inherit Metab Dis 30, no. 4 (Aug 2007): 614.
Link to the publication

Orteu, C. H., T. Jansen, O. Lidove, R. Jaussaud, D. A. Hughes, G. Pintos-Morell, U. Ramaswami, R. Parini, G. Sunder-Plassman, M. Beck, and A. B. Mehta.

Fabry Disease and the Skin: Data from Fos, the Fabry Outcome Survey
Br J Dermatol 157, no. 2 (Aug 2007): 331-7.
Link to the publication

Ries, M., J. T. Clarke, C. Whybra, A. Mehta, K. S. Loveday, R. O. Brady, M. Beck, and R. Schiffmann-

Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents
J Clin Pharmacol 47, no. 10 (Oct 2007): 1222-30.
Link to the publication

Sodi, A., A. S. Ioannidis, A. Mehta, C. Davey, M. Beck, and S.

Ocular Manifestations of Fabry's Disease: Data from the Fabry Outcome Survey
Br J Ophthalmol 91, no. 2 (Feb 2007): 210-4.
Link to the publication

Altarescu, G., G. Chicco, C. Whybra, S. Delgado-Sanchez, N. Sharon, M. Beck, and D. Elstein.

Correlation between Interleukin-6 Promoter and C-Reactive Protein (Crp) Polymorphisms and Crp Levels with the Mainz Severity Score Index for Fabry Disease
J Inherit Metab Dis 31, no. 1 (Feb 2008): 117-23.
Link to the publication

Hoffmann. B, M. Beck, A. Rolfs, and H. P. Neumann.

Fabry Disease - Complex Clinical Picture, Simple Diagnosis Procedure, Causal Treatment
Dtsch Med Wochenschr 133, no. 39 (Sep 2008): 1965-72; quiz 73-4.
Link to the publication

Kampmann, C., A. Linhart, F. Baehner, T. Palecek, C. M. Wiethoff, E. Miebach, C. Whybra, A. Gal, J. Bultas, and M. Beck.

Onset and Progression of the Anderson-Fabry Disease Related Cardiomyopathy
Int J Cardiol 130, no. 3 (Nov 28 2008): 367-73.
Link to the publication

Kampmann, C., C. M. Wiethoff, C. Whybra, F. A. Baehner, E. Mengel, and M. Beck.

Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Link to the publication

Kampmann, C., C. M. Wiethoff, C. Whybra, F. A. Baehner, E. Mengel, and M. Beck.

Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Link to the publication

Mehta, A., M. Beck, C. Kampmann, A. Frustaci, D. P. Germain, G. M. Pastores, and G. Sunder-Plassmann.

Enzyme Replacement Therapy in Fabry Disease: Comparison of Agalsidase Alfa and Agalsidase Beta
Mol Genet Metab 95, no. 1-2 (Sep-Oct 2008): 114-5
Link to the publication

Rohard, I., E. Schaefer, C. Kampmann, M. Beck, and A. Gal.

Association between Polymorphisms of Endothelial Nitric Oxide Synthase Gene (Nos3) and Left Posterior Wall Thickness (Lpwt) of the Heart in Fabry Disease
J Inherit Metab Dis 31, no. 6 (Oct 22 2008): 773.
Link to the publication

Teitcher, M., S. Weinerman, C. Whybra, M. Beck, N. Sharon, D. Elstein, and G. Altarescu. 

Genetic Polymorphisms of Vitamin D Receptor (Vdr) in Fabry Disease
Genetica 134, no. 3 (Nov 2008): 377-83.
Link to the publication

Thomaidis, T. M. Relle, M. Golbas, Ch. Brochhausen, P. R. Galle, M. Beck, and A. Schwarting.

Downregulation of a-Galactosidase a Upregulates Cd77: Functional Impact for Fabry Nephropathy
Kidney Int 75, no. 4 (2008): 399-407.
Link to the publication

Beck, M. 

Agalsidase Alfa for the Treatment of Fabry Disease: New Data on Clinical Efficacy and Safety
Expert Opin Biol Ther 9, no. 2 (Feb 2009): 255-61.
Link to the publication

Fellgiebel, A., I. Keller, D. Marin, M. J. Muller, I. Schermuly, I. Yakushev, J. Albrecht, H. Bellhauser, M. Kinateder, M. Beck, and P. Stoeter.

Diagnostic Utility of Different Mri and Mr Angiography Measures in Fabry Disease
Neurology 72, no. 1 (Jan 6 2009): 63-8.
Link to the publication

Kalkum, G., D. Macchiella, J. Reinke, H. Kolbl, and M. Beck.

Enzyme Replacement Therapy with Agalsidase Alfa in Pregnant Women with Fabry Disease
Eur J Obstet Gynecol Reprod Biol 144, no. 1 (May 2009): 92-3.
Link to the publication

Mehta, A., M. Beck, P. Elliott, R. Giugliani, A. Linhart, G. Sunder-Plassmann, R. Schiffmann, F. Barbey, M. Ries, and J. T. Clarke

Enzyme Replacement Therapy with Agalsidase Alfa in Patients with Fabry's Disease: An Analysis of Registry Data
Lancet 374, no. 9706 (Dec 12 2009): 1986-96.
Link to the publication

Mehta, A., J. T. Clarke, R. Giugliani, P. Elliott, A. Linhart, M. Beck, G. Sunder-Plassmann, and F. O. S. Investigators.

Natural Course of Fabry Disease: Changing Pattern of Causes of Death in Fos - Fabry Outcome Survey
J Med Genet 46, no. 8 (Aug 2009): 548-52.
Link to the publication

Pintos-Morell, G. and M. Beck.

Fabry Disease in Children and the Effects of Enzyme Replacement Treatment
Eur J Pediatr 168, no. 11 (Nov 2009): 1355-63.
Link to the publication

Thomaidis, T., M. Relle, J. Reinke, M. Beck, and A. Schwarting.

Effect of Enzyme Replacement Therapy (Ert) on Renal Function of Patients with Fabry's Disease
Med Klin (Munich) 104, no. 9 (Sep 15 2009): 699-703.
Link to the publication

West, M., K. Nicholls, A. Mehta, J. T. Clarke, R. Steiner, M. Beck, B. A. Barshop, W. Rhead, R. Mensah, M. Ries, and R. Schiffmann.

Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
J Am Soc Nephrol 20, no. 5 (May 2009): 1132-9.
Link to the publication

Whybra, C., E. Miebach, E. Mengel, A. Gal, K. Baron, M. Beck, and C. Kampmann.

A 4-Year Study of the Efficacy and Tolerability of Enzyme Replacement Therapy with Agalsidase Alfa in 36 Women with Fabry Disease
Genet Med 11, no. 6 (Jun 2009): 441-9.
Link to the publication

Giannini, E. H., A. B. Mehta, M. J. Hilz, M. Beck, D. G. Bichet, R. O. Brady, M. West, D. P. Germain, C. Wanner, S. Waldek, J. T. Clarke, E. Mengel, J. M. Strotmann, D. G. Warnock, and A. Linhart.

A Validated Disease Severity Scoring System for Fabry Disease
Mol Genet Metab 99, no. 3 (Mar 2010): 283-90.
Link to the publication

Kruger, R., K. Bruns, S. Grunhage, H. Rossmann, J. Reinke, M. Beck, and K. J. Lackner. 

Determination of Globotriaosylceramide in Plasma and Urine by Mass Spectrometry
Clin Chem Lab Med 48, no. 2 (Feb 2010): 189-98.
Link to the publication

Mehta, A., M. Beck, F. Eyskens, C. Feliciani, I. Kantola, U. Ramaswami, A. Rolfs, A. Rivera, S. Waldek, and D.P. Germain.

Fabry Disease: A Review of Current Management Strategies
Qjm 103, no. 9 (September 1, 2010 2010): 641-59.
Link to the publication

Shemesh, T., C. Whybra, S. Delgado-Sanchez, M. Beck, D. Elstein, and G. Altarescu.

Paraoxonase (Pon1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease
Nephron Clinical Practice 116, no. 4 (2010): c289-c93.
Link to the publication

Clarke, J. T., R. Giugliani, G. Sunder-Plassmann, P. M. Elliott, G. Pintos-Morell, E. Hernberg-Stahl, M. Malmenas, M. Beck, and F. O. S. Investigators.

Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (Fos)
Value Health 14, no. 6 (Sep-Oct 2011): 862-6. Accessed 2011/10//
Link to the publication

Ramaswami, U., R. Parini, C. Kampmann, and M. Beck. 

Safety of Agalsidase Alfa in Patients with Fabry Disease under 7 Years
Acta Paediatr 100, no. 4 (Apr 2011): 605-11.
Link to the publication

Schermuly, I., M. J. Muller, K. M. Muller, J. Albrecht, I. Keller, I. Yakushev, M. Beck, and A. Fellgiebel

Neuropsychiatric Symptoms and Brain Structural Alterations in Fabry Disease
Eur J Neurol 18, no. 2 (Feb 2011): 347-53.
Link to the publication

Gal, A., M. Beck, and B. Winchester.

Clinical Utility Gene Card For: Fabry Disease
Eur J Hum Genet 20, no. 2 (Feb 2012).
Link to the publication

Kruger, R., A. Tholey, T. Jakoby, R. Vogelsberger, R. Monnikes, H. Rossmann, M. Beck, and K. J. Lackner.

Quantification of the Fabry Marker Lysogb3 in Human Plasma by Tandem Mass Spectrometry
J Chromatogr B Analyt Technol Biomed Life Sci 883-884 (Feb 1 2012): 128-35.
Link to the publication

Ramaswami, U., R. Parini, G. Pintos-Morell, G. Kalkum, C. Kampmann, M. Beck, and F. O. S. Investigators

abry Disease in Children and Response to Enzyme Replacement Therapy: Results from the Fabry Outcome Survey
Clin Genet 81, no. 5 (May 2012): 485-90.
Link to the publication

Ramaswami, U., D. E. Stull, R. Parini, G. Pintos-Morell, C. Whybra, G. Kalkum, M. Rohrbach, M. Raluy-Callado, M. Beck, W. H. Chen, I. Wiklund, and F. O. S. Investigators.

Measuring Patient Experiences in Fabry Disease: Validation of the Fabry-Specific Pediatric Health and Pain Questionnaire (Fphpq)
Health Qual Life Outcomes 10, no. 1 (Sep 20 2012): 116.
Link to the publication

Beck, M., J. Gaedeke, P. Martus, N. Karabul, and A. Rolfs.

Home-Based Infusion Therapy--a Feasible Approach for Chronically Ill Patients? A New Path to Provide Superior Patient Care Exemplified for Fabry's Disease
Dtsch Med Wochenschr 138, no. 46 (Nov 2013): 2345-50.
Link to the publication

Kampmann, C., G. Kalkum, M. Beck, and C. Whybra.

Successful Long-Term Enzyme Replacement Therapy in a Young Adult with Fabry Disease
Clin Genet 83, no. 4 (Apr 2013): 395-6.
Link to the publication

Beck, M., D. Hughes, C. Kampmann, S. Larroque, A. Mehta, G. Pintos-Morell, U. Ramaswami, M. West, A. Wijatyk, R. Giugliani, and Group Fabry Outcome Survey Study.

Long-Term Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: A Fabry Outcome Survey Analysis
Mol Genet Metab Rep 3, no. 0 (Jun 2015): 21-7.
Link to the publication

Kampmann, C., A. Perrin, and M. Beck.

Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: Cardiac Outcomes after 10 Years' Treatment
Orphanet J Rare Dis 10 (2015): 125.
Link to the publication

Lelieveld, I. M., A. Bottcher, J. B. Hennermann, M. Beck, and A. Fellgiebel.

Eight-Year Follow-up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease
PLoS ONE 10, no. 9 (2015): e0137603.
Link to the publication

Lenders, M., N. Karabul, T. Duning, B. Schmitz, M. Schelleckes, R. Mesters, H. W. Hense, M. Beck, S. M. Brand, and E. Brand.

Thromboembolic Events in Fabry Disease and the Impact of Factor V Leiden
Neurology 84, no. 10 (Mar 10 2015): 1009-16.
Link to the publication

Pitz, S., G. Kalkum, L. Arash, N. Karabul, A. Sodi, S. Larroque, M. Beck, and A. Gal.

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
PLoS ONE 10, no. 3 (2015): e0120814.
Link to the publication

Giugliani, R. D. M. Niu, U. Ramaswami, M. West, D. Hughes, Ch. Kampmann, G. Pintos-Morell, K. Nicholls, J. M. Schenk, and M. Beck.

A 15-Year Perspective of the Fabry Outcome Survey
Journal of Inborn Errors of Metabolism and Screening 4 (2016): 2326409816666298.
Link to the publication

Kalkum, G., S. Pitz, N. Karabul, M. Beck, G. Pintos-Morell, R. Parini, M. Rohrbach, S. Bizjajeva, and U. Ramaswami

Paediatric Fabry Disease: Prognostic Significance of Ocular Changes for Disease Severity
BMC Ophthalmol 16, no. 1 (Nov 16 2016): 202.
Link to the publication

Gal, A., M. Beck, W. Hoppner, and D. P. Germain.

Clinical Utility Gene Card For: Fabry Disease - Update 2016
Eur J Hum Genet 25, no. 7 (Jun 2017): e1-e3.
Link to the publication

Beck, M. and T. M. Cox.

Comment: Why Are Females with Fabry Disease Affected?
Mol Genet Metab Rep 21 (Dec 2019): 100529.
Link to the publication

Ramaswami, U., M. Beck, D. Hughes, C. Kampmann, J. Botha, G. Pintos-Morell, M. L. West, D. M. Niu, K. Nicholls, R. Giugliani, and F. O. S. Study Group.

Cardio- Renal Outcomes with Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (Fos) Analysis
Drug design, development and therapy 13 (2019): 3705-15.
Link to the publication

### 

Moreno-Martinez, D., P. Aguiar, C. Auray-Blais, M. Beck, D. G. Bichet, A. Burlina, D. Cole, P. Elliott, U. Feldt-Rasmussen, S. Feriozzi, J. Fletcher, R. Giugliani, A. Jovanovic, C. Kampmann, M. Langeveld, O. Lidove, A. Linhart, M. Mauer, J. C. Moon, A. Muir, A. Nowak, J. P. Oliveira, A. Ortiz, G. Pintos-Morell, J. Politei, P. Rozenfeld, R. Schiffmann, E. Svarstad, A. S. Talbot, M. Thomas, C. Tondel, D. Warnock, M. L. West, and D. A. Hughes. 

Standardising Clinical Outcomes Measures for Adult Clinical Trials in Fabry Disease: A Global Delphi Consensus
Mol Genet Metab (Feb 20 2021).
Link to the publication

Bunge, S., W. J. Kleijer, C. Steglich, M. Beck, C. Zuther, C. P. Morris, E. Schwinger, J. J. Hopwood, H. S. Scott, and A. Gal.

Mucopolysaccharidosis Type I: Identification of 8 Novel Mutations and Determination of the Frequency of the Two Common Alpha-L-Iduronidase Mutations (W402x and Q70x) among European Patients
Hum Mol Genet 3, no. 6 (Jun 1994): 861-6.
Link to the publication

Bunge, S., W. J. Kleijer, C. Steglich, M. Beck, E. Schwinger, and A. Gal.

Mucopolysaccharidosis Type I: Identification of 13 Novel Mutations of the Alpha-L-Iduronidase Gene
Hum Mutat 6, no. 1 (1995): 91-4.
Link to the publication

de Ru, M. H., Q. G. Teunissen, J. H. van der Lee, M. Beck, O. A. Bodamer, L. A. Clarke, C. E. Hollak, S. P. Lin, M. V. Rojas, G. M. Pastores, J. A. Raiman, M. Scarpa, E. P. Treacy, A. Tylki-Szymanska, J. E. Wraith, J. Zeman, and F. A. Wijburg.

Capturing Phenotypic Heterogeneity in Mps I: Results of an International Consensus Procedure
Orphanet J Rare Dis 7, no. 1 (Apr 23 2012): 22.
Link to the publication

Muenzer, J., R. Giugliani, M. Scarpa, A. Tylki-Szymanska, V. Jego, and M. Beck.

Clinical Outcomes in Idursulfase-Treated Patients with Mucopolysaccharidosis Type Ii: 3-Year Data from the Hunter Outcome Survey (Hos)
Orphanet J Rare Dis 12, no. 1 (Oct 3 2017): 161.
Link to the publication

Muenzer, J., S. A. Jones, A. Tylki-Szymanska, P. Harmatz, N. J. Mendelsohn, N. Guffon, R. Giugliani, B. K. Burton, M. Scarpa, M. Beck, Y. Jangelind, E. Hernberg-Stahl, M. P. Larsen, T. Pulles, and D. A. H. Whiteman.

Ten Years of the Hunter Outcome Survey (Hos): Insights, Achievements, and Lessons Learned from a Global Patient Registry
Orphanet J Rare Dis 12, no. 1 (May 2 2017): 82.
Link to the publication

Scarpa, M., Z. Almassy, M. Beck, O. Bodamer, I. A. Bruce, L. De Meirleir, N. Guffon, E. Guillen-Navarro, P. Hensman, S. Jones, W. Kamin, C. Kampmann, C. Lampe, C. A. Lavery, E. L. Teles, B. Link, A. M. Lund, G. Malm, S. Pitz, M. Rothera, C. Stewart, A. Tylki-Szymanska, A. van der Ploeg, R. Walker, J. Zeman, J. E. Wraith, and Council Hunter Syndrome Europena Expert.

Mucopolysaccharidosis Type Ii: European Recommendations for the Diagnosis and Multidisciplinary Management of a Rare Disease
Orphanet J Rare Dis 6, no. 1 (Nov 7 2011): 72.
Link to the publication

Hoffmann, B., G. Schulze-Frenking, S. Al-Sawaf, M. Beck, and E. Mayatepek.

Hunter Disease before and During Enzyme Replacement Therapy
Pediatr Neurol 45, no. 3 (Sep 2011): 181-4.
Link to the publication

Rathmann, M., S. Bunge, M. Beck, H. Kresse, A. Tylki-Szymanska, and A. Gal.

Mucopolysaccharidosis Type Ii (Hunter Syndrome): Mutation "Hot Spots" in the Iduronate-2-Sulfatase Gene
Am J Hum Genet 59, no. 6 (Dec 1996): 1202-9.
Link to the publication

Wraith, J. E., M. Scarpa, M. Beck, O. A. Bodamer, L. De Meirleir, N. Guffon, A. Meldgaard Lund, G. Malm, A. T. Van der Ploeg, and J. Zeman.

Mucopolysaccharidosis Type Ii (Hunter Syndrome): A Clinical Review and Recommendations for Treatment in the Era of Enzyme Replacement Therapy
Eur J Pediatr 167, no. 3 (Mar 2008): 267-77.
Link to the publication

Wraith, J. E., M. Beck, R. Giugliani, J. Clarke, R. Martin, J. Muenzer, and H. O. S. Investigators.

Initial Report from the Hunter Outcome Survey
Genet Med 10, no. 7 (Jul 2008): 508-16.
Link to the publication

Jones, S. A., Z. Almassy, M. Beck, K. Burt, J. T. Clarke, R. Giugliani, C. Hendriksz, T. Kroepfl, L. Lavery, S. P. Lin, G. Malm, U. Ramaswami, R. Tincheva, J. E. Wraith, and H. O. S. Investigators.

Mortality and Cause of Death in Mucopolysaccharidosis Type Ii-a Historical Review Based on Data from the Hunter Outcome Survey (Hos)
J Inherit Metab Dis 32, no. 4 (Aug 2009): 534-43.
Link to the publication

Elcioglu, N. H., B. Pawlik, B. Colak, M. Beck, and B. Wollnik. 

A Novel Loss-of-Function Mutation in the Gns Gene Causes Sanfilippo Syndrome Type D
Genet Couns 20, no. 2 (2009): 133-9.
Link to the publication

Bunge, S., A. Knigge, C. Steglich, W. J. Kleijer, O. P. van Diggelen, M. Beck, and A. Gal. 

Mucopolysaccharidosis Type Iiib (Sanfilippo B): Identification of 18 Novel Alpha-N-Acetylglucosaminidase Gene Mutations
J Med Genet 36, no. 1 (Jan 1999): 28-31.
Link to the publication

Hendriksz, C. J., P. Harmatz, M. Beck, S. Jones, T. Wood, R. Lachman, C. G. Gravance, T. Orii, and S. Tomatsu.

Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis Iva
Mol Genet Metab 110, no. 1-2 (Sep-Oct 2013): 54-64.
Link to the publication

Wood, T. C., K. Harvey, M. Beck, M. G. Burin, Y. H. Chien, H. J. Church, V. D'Almeida, O. P. van Diggelen, M. Fietz, R. Giugliani, P. Harmatz, S. M. Hawley, W. L. Hwu, D. Ketteridge, Z. Lukacs, N. Miller, M. Pasquali, A. Schenone, J. N. Thompson, K. Tylee, C. Yu, and C. J. Hendriksz. 

Diagnosing Mucopolysaccharidosis Iva
J Inherit Metab Dis 36, no. 2 (Mar 2013): 293-307.
Link to the publication

Mollmann, C., C. G. Lampe, W. Muller-Forell, M. Scarpa, P. Harmatz, M. Schwarz, M. Beck, and C. Lampe.

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis Iva (Morquio a Syndrome)
JIMD Rep 11 (Apr 12 2013): 65-72.
Link to the publication

Solanki, G. A., K. W. Martin, M. C. Theroux, C. Lampe, K. K. White, R. Shediac, C. G. Lampe, M. Beck, W. G. Mackenzie, C. J. Hendriksz, and P. R. Harmatz.

Spinal Involvement in Mucopolysaccharidosis Iva (Morquio-Brailsford or Morquio a Syndrome): Presentation, Diagnosis and Management
J Inherit Metab Dis 36, no. 2 (Mar 2013): 339-55.
Link to the publication

Hofer, D., K. Paul, K. Fantur, M. Beck, F. Burger, C. Caillaud, K. Fumic, J. Ledvinova, A. Lugowska, H. Michelakakis, B. Radeva, U. Ramaswami, B. Plecko, and E. Paschke.

Gm1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid Beta-Galactosidase
Hum Mutat 30, no. 8 (Aug 2009): 1214-21.
Link to the publication

Paschke, E., I. Milos, H. Kreimer-Erlacher, G. Hoefler, M. Beck, M. Hoeltzenbein, W. Kleijer, T. Levade, H. Michelakakis, and B. Radeva.

Mutation Analyses in 17 Patients with Deficiency in Acid Beta-Galactosidase: Three Novel Point Mutations and High Correlation of Mutation W273l with Morquio Disease Type B
Hum Genet 109, no. 2 (Aug 2001): 159-66.
Link to the publication

Beck, M., E. M. Petersen, J. Spranger, and P. Beighton.

Morquio's Disease Type B (Beta-Galactosidase Deficiency) in Three Siblings
S Afr Med J 72, no. 10 (Nov 21 1987): 704-7.
Link to the publication

Beck, M., S. Braun, W. Coerdt, E. Merz, E. Young, and A. C. Sewell.

Fetal Presentation of Morquio Disease Type A
Prenat Diagn 12, no. 12 (Dec 1992): 1019-29.
Link to the publication

Bunge, S., W. J. Kleijer, A. Tylki-Szymanska, C. Steglich, M. Beck, S. Tomatsu, S. Fukuda, B. J. Poorthuis, B. Czartoryska, T. Orii, and A. Gal.

Identification of 31 Novel Mutations in the N-Acetylgalactosamine-6-Sulfatase Gene Reveals Excessive Allelic Heterogeneity among Patients with Morquio a Syndrome
Hum Mutat 10, no. 3 (1997): 223-32.
Link to the publication

Beck, M., J. Glossl, A. Grubisic, and J. Spranger.

Heterogeneity of Morquio Disease
Clin Genet 29, no. 4 (Apr 1986): 325-31.
Link to the publication

Braunlin, E., H. Rosenfeld, C. Kampmann, J. Johnson, M. Beck, R. Giugliani, N. Guffon, D. Ketteridge, C. M. Sa Miranda, M. Scarpa, I. V. Schwartz, E. Leao Teles, J. E. Wraith, P. Barrios, E. Dias da Silva, G. Kurio, M. Richardson, G. Gildengorin, J. J. Hopwood, M. Imperiale, A. Schatz, C. Decker, P. Harmatz, and Mps Vi Study Group.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Long-Term Cardiac Effects of Galsulfase (Naglazyme(R)) Therapy
J Inherit Metab Dis 36, no. 2 (Mar 2013): 385-94.
Link to the publication

Karageorgos, L., D. A. Brooks, A. Pollard, E. L. Melville, L. K. Hein, P. R. Clements, D. Ketteridge, S. J. Swiedler, M. Beck, R. Giugliani, P. Harmatz, J. E. Wraith, N. Guffon, E. Leao Teles, M. C. Sa Miranda, and J. J. Hopwood.

Mutational Analysis of 105 Mucopolysaccharidosis Type Vi Patients
Hum Mutat 28, no. 9 (Sep 2007): 897-903.
Link to the publication

Beck, M. 

Galsulfase: Enzyme-Replacement Therapy for Mucopolysaccharidosis Type Vi (Maroteaux-Lamy Syndrome)
Therapy 3, no. 1 (2006): 9-17.

Kottler, U., D. Demir, I. Schmidtmann, M. Beck, and S. Pitz.

Central Corneal Thickness in Mucopolysaccharidosis Ii and Vi
Cornea 29, no. 3 (Mar 2010): 260-2.
Link to the publication

Harmatz, P., Z. F. Yu, R. Giugliani, I. V. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, D. Ketteridge, J. J. Hopwood, B. Plecko, R. Steiner, C. B. Whitley, P. Kaplan, S. J. Swiedler, K. Hardy, K. I. Berger, and C. Decker.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Evaluation of Long-Term Pulmonary Function in Patients Treated with Recombinant Human N-Acetylgalactosamine 4-Sulfatase
J Inherit Metab Dis 33, no. 1 (Feb 2010): 51-60.
Link to the publication

Harmatz, P., R. Giugliani, I. V. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, D. Ketteridge, J. J. Hopwood, B. Plecko, R. Steiner, C. B. Whitley, P. Kaplan, Z. F. Yu, S. J. Swiedler, C. Decker, and Mps Vi Study Group.

Long-Term Follow-up of Endurance and Safety Outcomes During Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Final Results of Three Clinical Studies of Recombinant Human N-Acetylgalactosamine 4-Sulfatase
Mol Genet Metab 94, no. 4 (Aug 2008): 469-75.
Link to the publication

Harmatz, P., R. Giugliani, I. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, Z. F. Yu, J. Wittes, K. I. Berger, M. S. Newman, A. M. Lowe, E. Kakkis, S. J. Swiedler, and Mps Vi Phase 3 Study Group.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (Recombinant Human Arylsulfatase B or Rhasb) and Follow-on, Open-L
J Pediatr 148, no. 4 (Apr 2006): 533-39.
Link to the publication

Swiedler, S. J., M. Beck, M. Bajbouj, R. Giugliani, I. Schwartz, P. Harmatz, J. E. Wraith, J. Roberts, D. Ketteridge, J. J. Hopwood, N. Guffon, M. C. Sa Miranda, E. L. Teles, K. I. Berger, and C. Piscia-Nichols.

Threshold Effect of Urinary Glycosaminoglycans and the Walk Test as Indicators of Disease Progression in a Survey of Subjects with Mucopolysaccharidosis Vi (Maroteaux-Lamy Syndrome)
Am J Med Genet A 134A, no. 2 (Apr 15 2005): 144-50.
Link to the publication

Montano, A. M., N. Lock-Hock, R. D. Steiner, B. H. Graham, M. Szlago, R. Greenstein, M. Pineda, A. Gonzalez-Meneses, M. Coker, D. Bartholomew, M. S. Sands, R. Wang, R. Giugliani, A. Macaya, G. Pastores, A. K. Ketko, F. Ezgu, A. Tanaka, L. Arash, M. Beck, R. E. Falk, K. Bhattacharya, J. Franco, K. K. White, G. A. Mitchell, L. Cimbalistiene, M. Holtz, and W. S. Sly.

Clinical Course of Sly Syndrome (Mucopolysaccharidosis Type Vii)
J Med Genet 53, no. 6 (Jun 2016): 403-18.
Link to the publication

Beck, M., R. Barone, R. Hoffmann, W. Kratzer, T. Rakowsky, F. Nigro, and A. Fiumara.

Inter- and Intrafamilial Variability in Mucolipidosis Ii (I-Cell Disease)
Clin Genet 47, no. 4 (Apr 1995): 191-9.
Link to the publication

Tomatsu, S., M. A. Gutierrez, T. Ishimaru, O. M. Pena, A. M. Montano, H. Maeda, S. Velez-Castrillon, T. Nishioka, A. A. Fachel, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. S. Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, K. Isogai, Y. Suzuki, T. Orii, and A. Noguchi.

Heparan Sulfate Levels in Mucopolysaccharidoses and Mucolipidoses
J Inherit Metab Dis 28, no. 5 (Jan 2005): 743-57.

Cathey, S. S., M. Kudo, S. Tiede, A. Raas-Rothschild, T. Braulke, M. Beck, H. A. Taylor, W. M. Canfield, J. G. Leroy, E. F. Neufeld, and V. A. McKusick.

Molecular Order in Mucolipidosis Ii and Iii Nomenclature
Am J Med Genet A 146A, no. 4 (Feb 15 2008): 512-3.
Link to the publication

Beck, M., S. W. Bender, H. L. Reiter, W. Otto, R. Bassler, H. Dancygier, and J. Gehler.

Neuraminidase Deficiency Presenting as Non-Immune Hydrops Fetalis
Eur J Pediatr 143, no. 2 (Dec 1984): 135-9.
Link to the publication

Beck, M., E. Scheuring, H. U. Voelter, J. Brandt, and K. Harzer.

Neuraminidase Assay in Cultured Human Fibroblasts: In Situ Versus in Vitro Procedures
Clin Chim Acta 251, no. 2 (Jul 30 1996): 163-71.
Link to the publication

Tekinalp, G., D. Aliefendioglu, A. Yuce, M. Caglar, and M. Beck.

A Case with Early Infantile Form of Galactosialidosis with Unusual Haematological Findings
J Inherit Metab Dis 22, no. 5 (1999): 668-9.

Penzel, R., J. Uhl, J. Kopitz, M. Beck, H. F. Otto, and M. Cantz.

Splice Donor Site Mutation in the Lysosomal Neuraminidase Gene Causing Exon Skipping and Complete Loss of Enzyme Activity in a Sialidosis Patient
FEBS Lett 501, no. 2-3 (Jul 20 2001): 135-8.
Link to the publication

At present we have no literature available.

For you as a patient

  • we offer the opportunity to participate in the latest drug trials.
  • we offer access to clinical trials and the latest scientific information.
  • we offer time and care.
  • we provide close cooperation with patient care facilities.
  • we promote your active role in clinical trials (patient reported outcome).
More about SphinCS
#

Current Studies

Clinical research for lysosomal diseases is fortunately receiving more and more attention. We would like to help you stay up to date and inform you accordingly about studies currently taking place.
An overview of the current therapy concepts with gene therapy, haematopoietic stem cell transplantation (bone marrow transplantation), enzyme replacement therapy, substrate reduction therapy and chaperone therapy is scientifically presented in the article "Precision Medicine for Lysosomal Disorders" (Jul 26 2020). Furthermore, we have tried to illustrate the topic of therapy concepts for lysosomal diseases in a comic.

To the studies
SphinCS - Clinical Science for LSD | Current Studies

Lysosomal Storage Disorders

The Scorpion

Fabry Disease

Fabry Disease is an X-chromosomal inherited lysosomal storage disorder based on the deficiency of the enzyme alpha-galactosidase A. This leads to accumulation of globotriaosyl-ceramide (Gb3) in the cells of various organs. The clinical picture of M. Fabry is very heterogeneous and ranges from mild phenotypes rather in heterozygous women to severe clinical course in classically affected men. Characteristic symptoms include acroparesthesia, cardiac symptoms associated with cardiomyopathy and arrhythmias, progressive renal failure and cerebro-vascular complications (strokes). A typical eye manifestation is the cornea verticillata. Therapeutically, 3 drugs are currently available: enzyme replacement therapies with agalsidase alfa or agalsidase beta or chaperone therapy with migalastat. 

More about Fabry Disease
Fabry Disease | SphinCS - Clinical Science for LSD

What are Lysosomal Storage Disorders?

Lysosomal Storage Disorders (LSDs) are a group of more than 50 rare hereditary metabolic diseases. The diseases are characterized by an abnormal accumulation of various toxic substances in the body cells as a result of enzyme defects.

Lysosomal storage diseases affect the lysosome, a structure in the cells that breaks down substances such as proteins, carbohydrates and old cell parts so that the body can recycle them. As a result, various parts of the body may be affected, including the skeleton, brain, skin, heart and central nervous system. New lysosomal storage diseases continue to be identified.

To the LSDs
SphinCS - Clinical Science for LSD | LSD

Looking forward to hear from you

By submitting the form, I agree that my data from the contact form will be collected and processed to answer my request. You can find further information in our data protection declaration.