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Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

BACKGROUND: Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of the gene...

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Detalles Bibliográficos
Autores principales:	Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Alborzi, Alireza, Shojazadeh, Alireza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8050929/ https://www.ncbi.nlm.nih.gov/pubmed/33858366 http://dx.doi.org/10.1186/s12887-021-02648-6

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