Case of citrullinemia diagnosed by DNA analysis: including prenatal genetic diagnosis from amniocytes of next pregnancy.
Hayakawa
Masahiro
M
Department of Pediatric Cardiology and Neonatology, Ogaki Municipal Hospital, Nagoya University Hospital, Japan. masahaya@med.nagoya-u.ac.jp
Kato
Yuuichi
Y
Takahashi
Rieko
R
Tauchi
Nobuo
N
D000650:Amnion / Q000166:cytology*; D001124:Argininosuccinate Synthase / Q000378:metabolism; D020159:Citrullinemia / Q000175:diagnosis* / Q000628:therapy; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D011296:Prenatal Diagnosis
D001124:Argininosuccinate Synthase