Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

PURPOSE: Glycogen storage disease type III (GSDIII) is a uncommon autosomal recessive inherited metabolic disorder, which is caused by variants in the AGL gene. The purpose of this study was to elucidate the clinical and functional features of two novel variants in two families with GSDIIIa. METHODS...

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Detalles Bibliográficos
Autores principales: Yu, Tingting, Fu, Hao, Yang, Aoyu, Liang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243941/
https://www.ncbi.nlm.nih.gov/pubmed/37287601
http://dx.doi.org/10.1155/2023/6679871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243941/
https://www.ncbi.nlm.nih.gov/pubmed/37287601
http://dx.doi.org/10.1155/2023/6679871

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