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Article

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.

PloS one - 1 Jan 2022

Kumar Tejashwini Vittal, Bhat Meenakshi, Narayanachar Sanjeeva Ghanti, Narayan Vinu, Srikanth Ambika K, Anikar Swathi, Shetty Swathi

Abstract excerpt

Glycogen storage disorders occur due to enzyme deficiencies in the glycogenolysis and gluconeogenesis pathway, encoded by 26 genes. GSD's present with overlapping phenotypes with variable severity. In this series, 57 individuals were molecularly confirmed for 7 GSD subtypes and their demographic data, clinical profiles and genotype-phenotype co-relations are studied. Genomic DNA from venous blood samples was...

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Identifiers

PMID: 35834487
DOI: 10.1371/journal.pone.0270373
PMCID: PMC9282608

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