SphinCS - Clinical Science for LSD

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Forschung und klinische Studien funktionieren nur Hand in Hand mit Ihnen. Wir bedanken uns für all die Unterstützung, die Sie der Forschung und uns in Zukunft bieten wollen und vielleicht bereits bieten. Im Gegenzug hoffen wir, dass unsere Forschung Ihnen so viel wie möglich zurück geben kann.

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Das Team von SphinCS

Geschäftsführer

Dr. Eugen Mengel

Principal Investigator, Gründer und CEO der SphinCS GmbH & SphinCS Lyso gemeinnützige UG. Dr. Mengel hat sich der Forschung auf dem Gebiet der LSDs gewidmet und massgeblich zur Weiterentwicklung dieses Forschungsgebietes beigetragen. 

Lebenslauf von Dr. Eugen Mengel
Dr. Eugen Mengel | SphinCS - Clinical Science for LSD

Berater

Prof. Dr. Michael Beck

Dr. Beck verfügt über einen breiten wissenschaftlichen Hintergrund in den Bereichen: Medizin, Pädiatrie, Biochemie und Humangenetik. Er hat international großen Einfluss auf die Weiterentwicklung des Studiengebiets der LSDs. Bei SphinCS arbeitet er als Berater. 

Lebenslauf von Prof. Dr. Michael Beck
Prof. Dr. Michael Beck | SphinCS - Clinical Science for LSD

Leitung & Koordination

Petra Kleinhans

Petra Kleinhans ist examinierte Fachkinderkrankenschwester und arbeitet seit über 16 Jahren im Bereich der lysosomalen Speicherkrankheiten. In diesem Zeitraum entwickelte sie ihre Expertise in klinischen Studien von Phase I-IV. Neben der Studienkoordination und dem Studien Management gehört die Projektentwicklung zu ihre Haupttätigkeit.
Am Standort Hochheim organisiert die Mitbegründerin der SphinCS Studien der Seltenen bis Ultraseltenen Krankheiten.

Lebenslauf von Petra Kleinhans
Petra Kleinhans | SphinCS - Clinical Science for LSD

Ärztliche Studienleitung | Fachärztin für Kinder- und Jugendmedizin

Dr. med. Yasmina Amraoui

Frau Dr. Amraoui verfügt über eine 15-jährige Expertise in der Diagnostik, Betreuung und Behandlung von Patienten mit lysosomalen Stoffwechselerkrankungen, die sie während ihrer Tätigkeit als Fachärztin für Kinder- und Jugendmedizin an der Universitätsmedizin Mainz erwarb. Fr. Dr. Amraoui nahm als Prüfärztin an über 30 klinischen Studien teil und war maßgeblich an der Erforschung verschiedener lysosomaler Speichererkrankungen und der Zulassung verschiedener Medikamente beteiligt. Seit Oktober 2019 verstärkt Frau Dr. Amraoui mit ihrer hohen fachlichen Kompetenz als Prüfärztin das Team der SphinCS. Zu ihren Tätigkeiten gehören neben der Leitung und Durchführung von klinischen Studien die Projektentwicklung. 

Lebenslauf von Dr. med. Yasmina Amraoui
Dr. med. Yasmina Amraoui | SphinCS - Clinical Science for LSD

Ärztin

Dr. Grecia Mendoza Rios

Nach Abschluss ihres Medizinstudiums an der mexikanischen Universität Michoacan of Saint Nicholas of Hidalgo arbeitete Frau Rios als Notärztin. Seit 2020 gehört sie zum SphinCS-Team. 

Lebenslauf von Dr. Grecia Mendoza Rios
Dr. Grecia Mendoza Rios | SphinCS - Clinical Science for LSD

Studienkoordinatorin

Loreen Gramsch

Loreen Gramsch ist examinierte Kinderkrankenschwester und absolvierte 2011 berufsbegleitend eine ½ jährige Ausbildung zur Studienassistentin. Seit 2009 arbeitet sie als Studienkoordinatorin in klinischen Studien der Phasen I-IV. Sie eignete sich in den letzten 4 Jahren eine hohe fachliche Kompetenz auf dem Gebiet der lysosomalen Speichererkrankungen an. Seit April 2020 verstärkt Frau Gramsch mit ihrer Expertise als Studienkoordinatorin das Team der SphinCS. Zu ihren Tätigkeiten gehören neben der Koordination und Durchführung von klinischen Studien die Projektentwicklung.

Lebenslauf von Loreen Gramsch
Loreen Gramsch | SphinCS - Clinical Science for LSD

Zertifizierte Prüfärztin für klinische Studien

Dr. med. Verena Schädlich

Nach der Ausbildung zur Kinderkrankenschwester sammelte Frau Dr. Schädlich bereits 2003 als Studienassistentin erste Erfahrungen in dem Bereich LSD in der Arbeitsgruppe von Prof. Beck und Dr. Mengel und promovierte in diesem Bereich zum Thema Morbus Gaucher. Im Anschluss an das Medizinstudium war sie einige Jahre als Ärztin in der Anästhesie und Intensivmedizin tätig, bevor sie 2016 als Research Physician in die klinischen Forschung wechselte. Seit September 2020 verstärkt sie nun nach 17 Jahren wieder Dr. Eugen Mengel und das SphinCS Team als zertifizierte Prüfärztin für klinische Studien.

Lebenslauf von Dr. med. Verena Schädlich
Dr. med. Verena Schädlich | SphinCS - Clinical Science for LSD

Literatur

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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.
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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 zur Publikation

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.
Link zur Publikation

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

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

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.
Link zur Publikation

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.
Link zur Publikation

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.
Link zur Publikation

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.
Link zur Publikation

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.
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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.
Link zur Publikation

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.
Link zur Publikation

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.
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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 zur Publikation

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.
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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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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.
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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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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

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

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

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

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 zur Publikation

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).
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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.
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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.
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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.
Link zur Publikation

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 zur Publikation

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 zur Publikation

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.
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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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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

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

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 zur Publikation

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 zur Publikation

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.
Link zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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 zur Publikation

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.
Link zur Publikation

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 zur Publikation

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 zur Publikation

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