Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene

Objective: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain atrophy, microencephalic macrocephaly, decreased...

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Main Authors: Hsiu-Huei Peng (Author), Sheng-Wen Shaw (Author), Kuan-Gen Huang (Author)
Format: Book
Published: Elsevier, 2018-02-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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