Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

doi:10.3390/genes12121987

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Article

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Genes - 15 Dec 2021

Ersoy Melike, Uyanik Bulent, Gedikbasi Asuman

Abstract excerpt

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype-phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic...

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PMID: 34946936
DOI: 10.3390/genes12121987
PMCID: PMC8701369

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