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Article

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

Human mutation - 1 Jan 2000

Seydewitz H H, Matern D

Abstract excerpt

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L, and G188D have not been reported so far. This study underscores that molecular genetic...

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PMID: 10612834
DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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