Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Human mutation

Volumn 25, Issue 4, 2005, Pages 413-

  Wolf, Barry ^a   Jensen, Kevin P ^a   Barshop, Bruce ^a   Blitzer, Miriam ^a   Carlson, Martha ^a   Goudie, David R ^a   Gokcay, Gulden Huner ^a   Demirkol, Mubeccel ^a   Baykal, Tolunay ^a   Demir, F ^a   Quary, Sharon ^a   Shih, Ling Yu ^a   Pedro, Helio F ^a   Chen, Tsui Hua H ^a   Slonim, Alfred E ^a  

^a UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

ALLELE; ARTICLE; BINDING SITE; BIOTINIDASE DEFICIENCY; CHEMISTRY; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUTATION; NEWBORN; PATHOPHYSIOLOGY;

ALLELES; BINDING SITES; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION;

EID: 33645861209     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9329     Document Type: Article

References (0)