title: Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
authors.affiliation: Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Aoki
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: M
authors.initials: M
authors.lastname: Hiratsuka
authors.forename: K
authors.initials: K
authors.lastname: Yanagihara
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: T
authors.initials: T
authors.lastname: Okabe
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
mesh_terms: 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
chemical_list: D001710:Biotin