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Article

Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection.

Prenatal diagnosis - 1 Feb 1996

Wong L J

Abstract excerpt

Current laboratory diagnosis for glycogen storage disease type 1a (GSD 1a) is established by functional enzyme assay to demonstrate the deficiency of glucose-6-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. The accuracy of test results is dependent on the stability of the enzyme during...

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PMID: 8650119
DOI: 10.1002/(SICI)1097-0223(199602)16:2<105::AID-PD817>3.0.CO;2-K

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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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