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