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- W2313282979 abstract "We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype." @default.
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- W2313282979 date "2003-10-01" @default.
- W2313282979 modified "2023-10-14" @default.
- W2313282979 title "Case Report: Severe phenotype despite high residual glutaryl‐CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I" @default.
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- W2313282979 doi "https://doi.org/10.1023/b:boli.0000005604.90621.e2" @default.
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