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Mouse model of encephalopathy and novel treatment strategies with substrate competition in glutaric aciduria type I

โœ Scribed by William J. Zinnanti; Jelena Lazovic


Book ID
116988971
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
178 KB
Volume
100
Category
Article
ISSN
1096-7192

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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