Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study-Reference-Cited by-同舟云学术

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

Published:2020-05-08 Issue:5 Volume:43 Page:1060-1069
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Patterson Marc C.¹^ORCID,Garver William S.²,Giugliani Robert³⁴,Imrie Jackie⁵,Jahnova Helena⁶,Meaney F John⁷,Nadjar Yann⁸,Vanier Marie T.⁹¹⁰,Moneuse Patrick¹¹,Morand Olivier¹¹,Rosenberg Daniel¹²,Schwierin Barbara¹³¹⁴,Héron Benedicte¹⁵¹⁶

Affiliation:

1. Division of Child and Adolescent Neurology, Departments of Neurology, Pediatrics and Medical Genetics Mayo Clinic Rochester Minnesota USA

2. Department of Chemistry and Chemical Biology University of New Mexico Albuquerque New Mexico USA

3. Medical Genetics Service Porto Alegre Brazil

4. Department of Genetics UFRGS Porto Alegre Brazil

5. Niemann‐Pick UK Washington UK

6. Department of Institute of Inherited Metabolic Disorders Charles University Prague Czech Republic

7. Department of Pediatrics University of Arizona Tucson Arizona USA

8. Department of Neurology Reference Center for Lysosomal Diseases (CRML), Hôpital de la Pitié‐Salpêtrière Paris France

9. INSERM Lyon France

10. Hopitaux de Lyon Lyon France

11. Global Business and Science Affairs Actelion Pharmaceuticals Ltd. Allschwil Switzerland

12. Epidemiology and Observational Studies, Actelion Pharmaceuticals Ltd., Allschwil Switzerland

13. Azafaros B.V, Leiden The Netherlands

14. Sorbonne Universite Paris France

15. Idorsia Pharmaceuticals Ltd. Allschwil Switzerland

16. Department of Neuropediatrics, CRML, Hopital Armand‐Trousseau Paris France

Funder

Actelion Pharmaceuticals

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12245

Reference22 articles.

1. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

2. Niemann-Pick disease type C

3. Disease and patient characteristics in NP-C patients: findings from an international disease registry

4. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

5. The National Niemann–Pick C1 disease database: Report of clinical features and health problems

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