Article
Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.
Prenatal diagnosis - 1 Aug 2002
Lin S K, Hsu S G, Ho E S C, Tsai C R, Hseih Y T, Lo F C, Lai H Y, Chen M H
Abstract excerpt
Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and...
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