Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I registry

European Journal of Pediatrics

Volumn 171, Issue 6, 2012, Pages 911-919

  D'Aco, Kristin ^a   Underhill, Lisa ^b   Rangachari, Lakshmi ^b   Arn, Pamela ^c   Cox, Gerald F ^b,d   Giugliani, Roberto ^e   Okuyama, Torayuki ^f   Wijburg, Frits ^g   Kaplan, Paige ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b GENZYME CORPORATION   (United States)

^c NEMOURS CHILDREN S CLINIC   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Enzyme replacement therapy; Hematopoietic stem cell transplant; Hurler; Hurler Scheie; Laronidase; Mucopolysaccharidosis I; Scheie

Indexed keywords

LARONIDASE;

ARTICLE; AWARENESS; CLINICAL ASSESSMENT; CLINICAL FEATURE; CORD BLOOD STEM CELL TRANSPLANTATION; ENZYME REPLACEMENT; FEMALE; HEALTH CARE PERSONNEL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; MAJOR CLINICAL STUDY; MALE; OBSERVATIONAL STUDY; PHENOTYPE; PRIORITY JOURNAL; QUALITY OF LIFE; TREATMENT OUTCOME;

CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; DELAYED DIAGNOSIS; ENZYME REPLACEMENT THERAPY; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IDURONIDASE; INFANT; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS I; PHENOTYPE; PHYSICIAN'S PRACTICE PATTERNS; REGISTRIES; TREATMENT OUTCOME;

EID: 84863717886     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1644-x     Document Type: Article

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