Lysomal Storage Disorder

Die Königsboa

M. Pompe

Morbus Pompe (auch Glykogenose II oder AMD (Acid maltase deficiency) genannt) ist eine seltene, erbliche Stoffwechselerkrankung, bei der es aufgrund eines Mangels des Enzyms saure Glukosidase zu einer fortschreitenden Speicherung von Glykogen kommt. Ein völliges Fehlen dieses Enzyms führt bereits in den ersten Lebensmonaten zu einer ausgeprägten Kardiomyopathie sowie Muskel- und Trinkschwäche. Die Kinder sterben unbehandelt im 1. Lebensjahr. Bei vorhandener Restaktivität kommt es zu einem milderen Verlauf mit zunehmender Muskelschwäche und/oder Atemschwäche im Jugend- und Erwachsenenalter. Blutuntersuchungen zeigen eine erhöhte Aktivität der Kreatininkinase (CK) und der Leber-Enzyme.

M. Pompe | SphinCS - Clinical Science for LSD

Synonym: Glykogenose Typ II
Ätiologie: Defizienz der sauren alpha-1,4-Glukosidase
Gen: GAA-Gen
Vererbungsmodus: Autosomal-rezessiv

Phänotypen

  • Infantile Form
  • Late-onset Form 

Leitsymptome

Infantile Form
(Manifestationsalter in den ersten Lebensmonaten)

  • Kardiomyopathie
  • Muskelhypotonie „floppy infant“
  • Ateminsuffizienz
  • Motorische Entwicklungsverzögerung/-stillstand

Late-onset Form
(Manifestationsalter variabel, Kindes- bis Erwachsenenalter)

  • Progrediente proximale Muskelschwäche
  • Zwerchfellschwäche
  • Ateminsuffizienz
  • Schlafapnoe

Diagnostik

Messung der α-Glucosidase

  • Elegant im Trockenblut
  • Traditionell in Lymphozyten – EDTA-Blut – Probenhandling und Probenversand fehleranfällig
  • Ergebnis kann durch eine Reihe von Faktoren falsch positiv / falsch negativ sein – Unterscheidung zu Heterozygoten gelegentlich schwierig
  • Immer einen spezifischen Parameter zur Bestätigung mituntersuchen

Screeningparameter

  • CK-Erhöhung, Myoglobinerhöhung: unspezifisch, aber sensitiv
  • Gluc4 – Tetrasaccharid im Urin – weder sensitiv noch spezifisch
  • PAS-Färbung des Glykogen in Lymphozyten – gute Screeningmethode aber relativ aufwändig

Leitbefunde

  • Isolierte CK-Erhöhung - Zufallsbefund
  • Proximale Muskelschwäsche: Standbild mit Hyperlordose und scheinbar vorgewölbten Bauch, Trendelenburg Gang, Schwäche im Hüftgürtel
  • Schwäche der Atemmuskulatur, Zwerchfellschwäche, Atemnot im Liegen

Genetischer Befund

  • Achtung komplexe Befunde bei intronischen Mutationen – erfahrenes Labor!
  • Regelmäßig Mutationen, die mit Sangersequenzierung alleine nicht gefunden werden.
  • Erklärt der Genotyp den Phänotyp? Bitte überprüfen! 

Therapie

Alglucosidase alfa (Myozyme®)

Current Studies

ASMD
LTS13632
A long-term study to assess the ongoing safety and efficacy of olipudase alfa in
patients with acid sphingomyelinase deficiency
Age

No information
(participation in previous study required)

Status active

Patient admission closed

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
Gaucher Disease GM1-Gangliosidosis GM2-Gangliosidosis
Retrieve
Natural history study for pediatric parents with early onset of either GM1 gangliosidoses, GM 2 gangliosidoses, or Gaucher disease typ 2
Age

Birthdate after or at 1 of january 2000

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
Fabry Disease
Modify Idorsia
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 recruiting

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 active

Patient admission recruiting

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
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.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/

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

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

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.

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

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

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.

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

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

Lysosomal Acid Lipase Deficiency: Expanding DifferenLal Diagnosis

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

Vom Dahl, S., and E. Mengel

Lysosomal Storage Diseases as DifferenLal Diagnosis of Hepatosplenomegaly

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)

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

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

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

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.

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

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

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

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

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

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

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

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)

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

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

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

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

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

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

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

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

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

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Vom Dahl, S., and E. Mengel

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly

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

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

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

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

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

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

Motor Development in Infantile Pompe Disease

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Mucopolysaccharidosis (MPS) Clinical and Neuroradiological Aspects of the Different types

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

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®)

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

Cholesterinester- Speicher-krankheit. Seltene Erkrankungen oder häufig übersehen?

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

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

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

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

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

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

Retinal and optic nerve degeneration in α-mannosidosis

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

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)

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

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

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

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

Enzyme Replacement Therapy: A New Treatment Concept in Gaucher Disease

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

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

Bone Complications in Children with Gaucher Disease

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

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

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

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

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

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

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

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

The Management of Pregnancy in Gaucher Disease

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

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

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

Morbus Gaucher: Eine Stoffwechselstörung Mit Typischer, Kutaner Manifestation

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

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

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

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

Rheumatologic Aspects of Lysosomal Storage Diseases

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?

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

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

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

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

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry

Michels, H. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnoses to Rheumatic Disorders

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

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

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

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

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

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

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

Vom Dahl, S. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly

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

Gaucher Disease and Miscellaneous

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

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)

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

Cholesterinester-Speicherkrankheit - Seltene Erkrankung Oder Häufig Übersehen?

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

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

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

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

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

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

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

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

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

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

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

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

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

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)

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

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

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

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

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

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry

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

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

At present we have no literature available.