TY  - GEN
AU  - Uematsu,Mitsugu
AU  - Sakamoto,Osamu
AU  - Sugawara,Noriko
AU  - Kumagai,Naonori
AU  - Morimoto,Tetsuji
AU  - Yamaguchi,Seiji
AU  - Hasegawa,Yuki
AU  - Kobayashi,Hironori
AU  - Ihara,Kenji
AU  - Yoshino,Makoto
AU  - Watanabe,Yoriko
AU  - Inokuchi,Takahiro
AU  - Yokoyama,Takato
AU  - Kiwaki,Kohji
AU  - Nakamura,Kimitoshi
AU  - Endo,Fumio
AU  - Tsuchiya,Shigeru
AU  - Ohura,Toshihiro
TI  - Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
SN  - 1434-5161
PY  - 2008///0206
KW  - Carbon-Carbon Ligases
KW  - deficiency
KW  - Frameshift Mutation
KW  - Humans
KW  - Infant, Newborn
KW  - Japan
KW  - Mutation
KW  - Mutation, Missense
KW  - Neonatal Screening
KW  - methods
KW  - Tandem Mass Spectrometry
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s10038-007-0211-9
ER  -