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Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

✍ Scribed by S. Kölker; E. Christensen; J. V. Leonard; C. R. Greenberg; A. B. Burlina; A. P. Burlina; M. Dixon; M. Duran; S. I. Goodman; D. M. Koeller; E. Müller; E. R. Naughten; E. Neumaier-Probst; J. G. Okun; M. Kyllerman; R. A. Surtees; B. Wilcken; G. F. Hoffmann; P. Burgard

Publisher
Springer
Year
2007
Tongue
English
Weight
385 KB
Volume
30
Category
Article
ISSN
0141-8955

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Novel mutations of the glutaryl-CoA dehy
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
✍ lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a