Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

@article{Mushimoto2011ClinicalAM,
  title={Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.},
  author={Yuichi Mushimoto and Seiji Fukuda and Yuki Hasegawa and Hironori Kobayashi and Jamiyan Purevsuren and Hong Li and Takeshi Taketani and Seiji Yamaguchi},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={102 3},
  pages={343-8}
}
Glutaric acidemia type 1 (GA1) is a metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Untreated patients mostly develop severe striatal degeneration. More than 200 mutations have been reported in the GCDH gene, and common R402W and IVS10-2A>C were found in Caucasian and Chinese/Taiwanese, respectively. However, in Japan, genetic mutations have only been reported in a few cases. Herein, we report the clinical and molecular basis of GA1 in 19 Japanese patients… CONTINUE READING
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T

  • H. Ikeda, T. Kimura
  • Ikegami,M. Kato, A.Matsunaga, S. Yokoyama, S…
  • 1998
Highly Influential
6 Excerpts

E

  • S. Kolker
  • Christensen, J.V. Leonard, C.R.Greenberg, A.B…
  • 2007
Highly Influential
4 Excerpts

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