title: Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Tadashi
authors.initials: T
authors.lastname: Wada
authors.forename: Masataka
authors.initials: M
authors.lastname: Maruyama
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Hajime
authors.initials: H
authors.lastname: Takikawa
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Komatsu
mesh_terms: D000328:Adult; D001928:Brain Diseases, Metabolic / Q000209:etiology* / Q000378:metabolism*; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D020125:Mutation, Missense / Q000235:genetics; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D009954:Ornithine Carbamoyltransferase