Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular Genetics and Metabolism - Tập 98 - Trang 250-254 - 2009
J.E. Wraith1, N. Guffon2, M. Rohrbach3, W.L. Hwu4, G.C. Korenke5, B. Bembi6, C. Luzy7, R. Giorgino7, F. Sedel8
1Royal Manchester Children’s Hospital, Manchester, UK
2Reference Centre for Metabolic Diseases, CERLYMM, Hospices Civils de Lyon, Lyon, France
3Kinderspital, Steinwiesstrasse 75, 8032 Zürich, Switzerland
4National Taiwan University Hospital, Taipei, Taiwan
5Elisabeth Kinderkrankenhaus, Oldenburg, Germany
6Regional Coordinator Centre for Rare Diseases, University Hospital, Udine, Italy
7Actelion Pharmaceuticals Ltd, Allschwil, Switzerland
8Hôpital Pitié Salpêtrière and Reference Center for Lysosomal Diseases, Paris, France

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Molecular Genetics and Metabolism

Tập 98

250-254

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