Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

Journal of Inherited Metabolic Disease

Volumn 23, Issue 2, 2000, Pages 185-187

  Pomponio, R J ^a   Ozand, P T ^b   Al Essa, M ^b   Wolf, B ^a  

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

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONSANGUINITY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; HUMAN; INFANT; MISSENSE MUTATION; NEWBORN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SAUDI ARABIA;

ALLELES; AMIDOHYDROLASES; BIOTIN; BIOTINIDASE; CHILD, PRESCHOOL; DNA; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SAUDI ARABIA; SEQUENCE DELETION;

EID: 0034076852     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005626102147     Document Type: Article

References (11)

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