Genotype-confirmed alanine aminotransferase deficiency in a Chinese patient with acute liver failure: a potential diagnostic pitfall.
Mak
Chloe Miu
CM
Fong
Bonnie Mei-Wah
BM
Lam
Ching-Wan
CW
Tam
Sidney
S
D000328:Adult; D000410:Alanine Transaminase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D002353:Carrier State / Q000821:virology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006509:Hepatitis B / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D017114:Liver Failure, Acute / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*
D018389:Codon, Nonsense; D000410:Alanine Transaminase