Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurolo
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
โ Scribed by Mitsugu Uematsu; Osamu Sakamoto; Noriko Sugawara; Naonori Kumagai; Tetsuji Morimoto; Seiji Yamaguchi; Yuki Hasegawa; Hironori Kobayashi; Kenji Ihara; Makoto Yoshino; Yoriko Watanabe; Takahiro Inokuchi; Takato Yokoyama; Kohji Kiwaki; Kimitoshi Nakamura; Fumio Endo; Shigeru Tsuchiya; Toshihiro Ohura
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 143 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1435-232X
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