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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Hlavní autoři:	Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2018-02-01
Edice:	Taiwanese Journal of Obstetrics & Gynecology
Témata:	Glutaric aciduria type 1 GCDH gene mutation Prenatal diagnosis Compound heterozygous gene mutation
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1028455917303170
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