Hasil Pencarian - Marc C Patterson

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  1. 1
    Miglustat in Niemann-Pick disease type C patients: a review

    Miglustat in Niemann-Pick disease type C patients: a review oleh Mercè Pineda, Mark Walterfang, Marc C. Patterson

    Diterbitkan 2018-08-01
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  2. 2
    Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

    Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings oleh Tatiana Bremova-Ertl, Tatiana Bremova-Ertl, Raphael Schiffmann, Marc C. Patterson, Marc C. Patterson, Marc C. Patterson, Nadia Belmatoug, Thierry Billette de Villemeur, Stanislavs Bardins, Claudia Frenzel, Claudia Frenzel, Věra Malinová, Silvia Naumann, Juliane Arndt, Eugen Mengel, Jörg Reinke, Ralf Strobl, Ralf Strobl, Michael Strupp, Michael Strupp

    Diterbitkan 2018-01-01
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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 oleh Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda

    Diterbitkan 2020-04-01
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  4. 4
    Hematopoietic cell transplantation for sialidosis type I

    Hematopoietic cell transplantation for sialidosis type I oleh Ashish O. Gupta, Marc C. Patterson, Tim Wood, Julie B. Eisengart, Paul J. Orchard, Troy C. Lund

    Diterbitkan 2022-03-01
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  5. 5
    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? oleh María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz

    Diterbitkan 2019-01-01
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  6. 6
    Acetylation turns leucine into a drug by membrane transporter switching

    Acetylation turns leucine into a drug by membrane transporter switching oleh Grant C. Churchill, Michael Strupp, Cailley Factor, Tatiana Bremova-Ertl, Mallory Factor, Marc C. Patterson, Frances M. Platt, Antony Galione

    Diterbitkan 2021-08-01
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  7. 7
    Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

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

    Diterbitkan 2021-02-01
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  8. 8
    Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

    Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study oleh Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava

    Diterbitkan 2021-02-01
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  9. 9
    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 oleh Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge

    Diterbitkan 2021-11-01
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  10. 10
    The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

    The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings oleh Illana Gozes, Marc C. Patterson, Anke Van Dijck, R. Frank Kooy, Joseph N. Peeden, Jacob A. Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone

    Diterbitkan 2017-05-01
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  11. 11
    Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

    Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis oleh Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard

    Diterbitkan 2019-07-01
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  12. 12
    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) oleh Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot

    Diterbitkan 2022-02-01
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  13. 13
    Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

    Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study oleh Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali

    Diterbitkan 2021-06-01
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