Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Topics

Amniocentesis
Amniotic Fluid
Base Sequence
Cells, Cultured
DNA Mutational Analysis
DNA Probes
Female
Glucose-6-Phosphate
Glucosephosphates
Glycogen Storage Disease
Humans
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pregnancy

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8650119-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection.PMID 8650119Read ↗

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.Semantic proximity Read ↗

Molecular prenatal diagnosis of glycogen storage disease type Ia.Semantic proximity Read ↗

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.Semantic proximity Read ↗

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.Semantic proximity Read ↗

A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.Semantic proximity Read ↗

Molecular genetics of type 1 glycogen storage disease.Semantic proximity Read ↗

Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.Semantic proximity Read ↗

Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.Semantic proximity Read ↗

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.Semantic proximity Read ↗

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.Semantic proximity Read ↗

Glycogen storage disease type Ia: molecular study in Brazilian patients.Semantic proximity Read ↗

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.