Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.

Human mutation

Volumn 29, Issue 6, 2008, Pages

  Bailey, Lisa M ^a   Ivanov, Ruby A ^a   Jitrapakdee, Sarawut ^a   Wilson, Callum J ^a   Wallace, John C ^a   Polyak, Steven W ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; HOLOCARBOXYLASE SYNTHETASES; LIGASE;

ARTICLE; CELL CULTURE; DISORDERS OF CARBOHYDRATE METABOLISM; FEMALE; FIBROBLAST; GENETICS; HALF LIFE TIME; HUMAN; MALE; METABOLISM; NEWBORN; PEDIGREE; SAMOA;

BIOTIN; CARBON-NITROGEN LIGASES; CELLS, CULTURED; FEMALE; FIBROBLASTS; HALF-LIFE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; SAMOA;

EID: 45049083010     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20766     Document Type: Article

References (0)