Chew, Hui Bein

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients. [electronic resource] - Journal of inherited metabolic disease Dec 2010 - S489-95 p. digital

Publication Type: Case Reports; Journal Article

1573-2665

10.1007/s10545-010-9248-6 doi


Asian People--genetics
Biomarkers--blood
Citrulline--blood
Citrullinemia--complications
DNA Mutational Analysis
Exons
Fatal Outcome
Female
Genetic Predisposition to Disease
Heredity
Humans
Infant
Infant, Newborn
Jaundice, Obstructive--etiology
Liver Failure--etiology
Malaysia--epidemiology
Male
Mitochondrial Membrane Transport Proteins--genetics
Mutation
Pedigree
Phenotype
Prognosis
Time Factors