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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

✍ Scribed by Couce, Ma Luz; López-Suárez, Olalla; Bóveda, Ma Dolores; Castiñeiras, Daisy E.; Cocho, José A.; García-Villoria, Judith; Castro-Gago, Manuel; Fraga, José Ma; Ribes, Antonia

Book ID
121509032
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
233 KB
Volume
17
Category
Article
ISSN
1090-3798

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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