title: A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.
authors: W L
authors: WL
authors: Hwu
authors: K
authors: K
authors: Kobayashi
authors: Y H
authors: YH
authors: Hu
authors: N
authors: N
authors: Yamaguchi
authors: T
authors: T
authors: Saheki
authors: S P
authors: SP
authors: Chou
authors: J H
authors: JH
authors: Wang
mesh_terms: D000328:Adult; D017668:Age of Onset; D000641:Ammonia / Q000097:blood; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002681:China; D002956:Citrulline / Q000008:administration & dosage / Q000097:blood / Q000627:therapeutic use; D020159:Citrullinemia / Q000097:blood / Q000145:classification / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics / Q000652:urine; D008099:Liver / Q000201:enzymology; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D002956:Citrulline; D000641:Ammonia