Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
Sakamoto
O
O
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Suzuki
Y
Y
Aoki
Y
Y
Li
X
X
Hiratsuka
M
M
Yanagihara
K
K
Inui
K
K
Okabe
T
T
Yamaguchi
S
S
Kudoh
J
J
Shimizu
N
N
Narisawa
K
K
D001710:Biotin / Q000627:therapeutic use*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D001710:Biotin