DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
Yuen
Yuet-Ping
YP
Lai
Chi-Kong
CK
Chan
Yan-Wo
YW
Lam
Ching-Wan
CW
Tong
Sui-Fan
SF
Chan
Kwok-Yin
KY
D044466:Asian People; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D006712:Homocystinuria / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D009154:Mutation; D010088:Oxidoreductases
D002352:Carrier Proteins; D008764:Methylmalonic Acid; D004247:DNA; C508359:MMACHC protein, human; D010088:Oxidoreductases