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

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 genotyp...

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Detalles Bibliográficos
Autores principales: Ersoy, Melike, Uyanik, Bulent, Gedikbasi, Asuman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701369/
https://www.ncbi.nlm.nih.gov/pubmed/34946936
http://dx.doi.org/10.3390/genes12121987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701369/
https://www.ncbi.nlm.nih.gov/pubmed/34946936
http://dx.doi.org/10.3390/genes12121987

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