Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

Pediatric Research

Volumn 46, Issue 1, 1999, Pages 20-27

  Norrgard, Karen J ^a   Pomponio, Robert J ^a,c   Hymes, Jeanne ^a   Wolf, Barry ^a,b  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^c GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE;

ARTICLE; CHILD; CONTROLLED STUDY; ENZYME DEFECT; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NEWBORN SCREENING; PRIORITY JOURNAL;

EID: 0032977031     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199907000-00004     Document Type: Article

References (27)

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