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Article

Molecular prenatal diagnosis of glycogen storage disease type Ia.

Prenatal diagnosis - 1 Apr 1996

Qu Y, Abdenur J E, Eng C M, Desnick R J

Abstract excerpt

Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of D-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for prenatal diagnosis. The recent isolation of the G6Pase gene and identification of several disease-causing mutations...

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Identifiers

PMID: 8734807
DOI: 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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