Profound biotinidase deficiency in two asymptomatic adults

American Journal of Medical Genetics

Volumn 73, Issue 1, 1997, Pages 5-9

  Wolf, Barry ^a   Norrgard, Karen ^a   Pomponio, Robert J ^a   Mock, Donald M ^b   Secor McVoy, Julie R ^a   Fleischhauer, Kristin ^a   Shapiro, Steven ^a   Blitzer, Miriam G ^c   Hymes, Jeanne ^a  

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

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

Biotin; Biotinidase; Biotinidase deficiency; Hydrolase; Mutations; Transferase

Indexed keywords

BIOTIN; BIOTINIDASE; HYDROLASE; TRANSFERASE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HAIR LOSS; HEARING LOSS; HUMAN; MALE; NEWBORN SCREENING; PRIORITY JOURNAL; RASH;

ADULT; AMIDOHYDROLASES; BIOTIN; BIOTINIDASE; FEMALE; HUMANS; LYSINE; MALE;

EID: 0030690996     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971128)73:1<5::AID-AJMG2>3.0.CO;2-U     Document Type: Article

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