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

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 dat...

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Detalles Bibliográficos
Autores principales: Kumar, Tejashwini Vittal, Bhat, Meenakshi, Narayanachar, Sanjeeva Ghanti, Narayan, Vinu, Srikanth, Ambika K., Anikar, Swathi, Shetty, Swathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9282608/
https://www.ncbi.nlm.nih.gov/pubmed/35834487
http://dx.doi.org/10.1371/journal.pone.0270373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9282608/
https://www.ncbi.nlm.nih.gov/pubmed/35834487
http://dx.doi.org/10.1371/journal.pone.0270373

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