Showing 1 - 20 results of 27 for search 'Eugen Mengel', सवाल का समय: 0.05सेकंड परिणाम को परिष्कृत करें
  1. 1
    Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

    Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges द्वारा Ulrike Blümlein, Eugen Mengel, Yasmina Amraoui

    प्रकाशित 2022-09-01
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  2. 2
    Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S]

    Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S] द्वारा Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz

    प्रकाशित 2011-04-01
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  3. 3
    Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

    Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry द्वारा Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda

    प्रकाशित 2020-04-01
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  4. 4
    The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.

    The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. द्वारा Eugen Mengel, Jens Gaedeke, Holger Gothe, Simon Krupka, Anja Lachmann, Jörg Reinke, Christoph Ohlmeier

    प्रकाशित 2020-01-01
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  5. 5
    A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

    A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades द्वारा Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz

    प्रकाशित 2019-11-01
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  6. 6
    FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.

    FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis. द्वारा Sven F Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries

    प्रकाशित 2020-01-01
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  7. 7
    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.

    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. द्वारा André Lollert, Clemens Stihl, Andreas M Hötker, Eugen Mengel, Jochem König, Katharina Laudemann, Seyfullah Gökce, Christoph Düber, Gundula Staatz

    प्रकाशित 2018-01-01
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  8. 8
    Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

    Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome द्वारा Christina Lampe MD, Mohit Jain PhD, Andrew Olaye PhD, Bianca Meesen MSc, Celeste Decker MD, Eugen Mengel MD

    प्रकाशित 2015-04-01
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  9. 9
    A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)

    A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) द्वारा Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

    प्रकाशित 2024-12-01
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  10. 10
    Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

    Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation द्वारा Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt

    प्रकाशित 2021-05-01
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  11. 11
    Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

    Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale द्वारा Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel, Tara Symonds

    प्रकाशित 2021-02-01
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  12. 12
    Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

    Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey द्वारा Florian B. Lagler, Angelika Moder, Marianne Rohrbach, Julia Hennermann, Eugen Mengel, Seyfullah Gökce, Thomas Hundsberger, Kai M. Rösler, Nesrin Karabul, Martina Huemer

    प्रकाशित 2019-09-01
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  13. 13
    Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

    Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective द्वारा Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge

    प्रकाशित 2021-11-01
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  14. 14
    Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

    Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. द्वारा Richard W D Welford, Marco Garzotti, Charles Marques Lourenço, Eugen Mengel, Thorsten Marquardt, Janine Reunert, Yasmina Amraoui, Stefan A Kolb, Olivier Morand, Peter Groenen

    प्रकाशित 2014-01-01
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  15. 15
    P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY

    P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFIC... द्वारा Jesus Villarrubia, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa Wasserstein, Nicole Armstrong, Gasparic Maja, Yong Kim, Holly Wong, Abhimanyu Yarramaneni

    प्रकाशित 2023-08-01
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  16. 16
    A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

    A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany द्वारा Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob

    प्रकाशित 2024-04-01
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  17. 17
    Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

    Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients द्वारा Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel

    प्रकाशित 2022-03-01
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  18. 18
    Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

    Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results द्वारा George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar

    प्रकाशित 2023-03-01
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  19. 19
    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE द्वारा James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

    प्रकाशित 2010-02-01
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  20. 20
    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE द्वारा James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

    प्रकाशित 2010-02-01
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