The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to collect information on...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah Catharina, Hannibal, Luciana, Spiekerkoetter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391619/
https://www.ncbi.nlm.nih.gov/pubmed/34440378
http://dx.doi.org/10.3390/genes12081205

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