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Article

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

Journal of inherited metabolic disease - 1 Jun 1998

Hüner G, Podskarbi T, Schütz M, Baykal T, Sarbat G, Shin Y S, Demirkol M

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Identifiers

PMID: 9700612
DOI: 10.1023/a:1005339616074

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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.

Related research

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Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.PMID 9700612Read ↗

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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Semantic proximity Read ↗

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Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.Semantic proximity Read ↗

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.Semantic proximity Read ↗

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Semantic proximity Read ↗

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