The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Molecular Genetics and Metabolism

Volumn 91, Issue 1, 2007, Pages 37-47

  Pastores, Gregory M ^a   Arn, Pamela ^b   Beck, Michael ^c   Clarke, Joe T R ^d   Guffon, Nathalie ^e   Kaplan, Paige ^f   Muenzer, Joseph ^g   Norato, Denise Y J ^h   Shapiro, Elsa ⁱ   Thomas, Janet ^j   Viskochil, David ^k   Wraith, J Edmond ^l  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Nemour Children's Clinic   (United States)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e EDOUARD HERRIOT HOSPITAL   (France)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g UNIVERSITY OF NORTH CAROLINA   (United States)

^h PONTIFÍCIA UNIVERSIDADE CATÓLICA DE CAMPINAS   (Brazil)

ⁱ UNIVERSITY OF MINNESOTA   (United States)

^j Children's Hospital   (United States)

^k UNIVERSITY OF UTAH   (United States)

^l ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

l Iduronidase; Enzyme replacement therapy (ERT); Glycosaminoglycan (GAG); Hematopoietic stem cell transplantation (HSCT); Hurler; Hurler Scheie; Laronidase; Lysosomal storage disorder; Mucopolysaccharidosis I (MPS I); Registry; Scheie

Indexed keywords

LARONIDASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DATA BASE; ENZYME REPLACEMENT; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; INFANT; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; SCHEIE SYNDROME;

AGE OF ONSET; DEMOGRAPHY; HUMANS; MUCOPOLYSACCHARIDOSIS I; REGISTRIES; SPECIALTY BOARDS;

EID: 34047274124     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.01.011     Document Type: Article

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