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Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.

The Kobe journal of medical sciences - 2 Nov 2021

Wijaya Yogik Onky Silvana, Niba Emma Tabe Eko, Yabushita Ryo, Bouike Yoshihiro, Nishio Hisahide, Awano Hiroyuki

Abstract excerpt

Glycogen storage disease type Ia (GSDIa, OMIM #232200) is an autosomal recessive metabolic disease characterized by impaired glucose homeostasis and has a long-term complication of hepatocellular adenoma/carcinoma. GSDIa is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). Recent studies have suggested that early treatment by gene replacement therapy may be a good solution to correct the...

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PMID: 34795158
PMCID: PMC8622217

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

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