Biochemical and molecular characteristics of citrin deficiency in Korean children - Oh, Seak Hee; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Kim, Kyung Mo; Yoo, Han-Wook (Journal of human genetics, 2017)
Keywords: Adolescent; Adult; Alleles; Amino Acids - metabolism; Asian Continental Ancestry Group - genetics; Base Sequence; Biochemical characteristics; Children; Cholestasis; Citrulline; Citrullinemia - genetics; Citrullinemia - metabolism; Dyslipidemia; Failure to Thrive - genetics; Failure to Thrive - metabolism; Female; Gallbladder diseases; Gene Frequency - genetics; Hepatitis; Humans; Infant; Infant, Newborn; Male; Methionine; Mitochondrial Membrane Transport Proteins - genetics; Mitochondrial Membrane Transport Proteins - metabolism; Mutation; Neonates; Patients; Phenotypes; Polymerase Chain Reaction; Republic of Korea; Retrospective Studies; Sequence Analysis, DNA; Threonine; Tyrosine; Young Adult