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The child with glutaric aciduria type I: anesthetic and perioperative management

✍ Scribed by Adelais G. Tsiotou; Anna Malisiova; Nikolaos Bouzelos; Dimitrios Velegrakis


Publisher
Springer
Year
2011
Tongue
English
Weight
133 KB
Volume
25
Category
Article
ISSN
0913-8668

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Novel mutations of the glutaryl-CoA dehy
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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