Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

Pediatrics

Volumn 125, Issue 1, 2010, Pages

  Gabrielli, Orazio ^a   Clarke, Lorne A ^b   Bruni, Stefano ^c   Coppa, Giovanni V ^a  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c Genzyme Italia   (Italy)

Author keywords

Enzyme replacement therapy; Hurler Scheie syndrome; Laronidase; Mucopolysaccharidosis I

Indexed keywords

CREATININE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; LARONIDASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CORNEA DISEASE; DISEASE COURSE; DYSOSTOSIS; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; FOLLOW UP; HEPATOSPLENOMEGALY; HUMAN; HURLER SYNDROME; INFANT; LEUKOCYTE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; VALVULAR HEART DISEASE;

DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG ADMINISTRATION SCHEDULE; ENZYME REPLACEMENT THERAPY; FOLLOW-UP STUDIES; HUMANS; IDURONIDASE; LONG-TERM CARE; MALE; MUCOPOLYSACCHARIDOSIS I; PEDIGREE; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; SIBLINGS; TIME FACTORS; TREATMENT OUTCOME;

EID: 74049159044     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2009-1728     Document Type: Article

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