Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.
Tanaka
Atsushi
A
Wada
Tadashi
T
Maruyama
Masataka
M
Tanaka
Atsushi
A
Takikawa
Hajime
H
Komatsu
Yasuhiro
Y
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
D003062:Codon; D009954:Ornithine Carbamoyltransferase