A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3...

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Detalles Bibliográficos
Autores principales: Zimmermann, Anca, Rossmann, Heidi, Bucerzan, Simona, Grigorescu-Sido, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739001/
https://www.ncbi.nlm.nih.gov/pubmed/26885414
http://dx.doi.org/10.1155/2016/8154910

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