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Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Background: Glycogen storage diseases (GSDs) are known as a group of disorders characterized by genetic errors leading to accumulation of glycogen in various tissues. Since different types of GSD can sometimes be clinically indistinguishable, next generation sequencing is becoming a powerful tool fo...

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Detalles Bibliográficos
Autores principales:	Dong, Rui, Wei, Xuxia, Zhang, Kaihui, Song, Fengling, Lv, Yuqiang, Gao, Min, Wang, Dong, Ma, Jian, Gai, Zhongtao, Liu, Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465291/ https://www.ncbi.nlm.nih.gov/pubmed/36105079 http://dx.doi.org/10.3389/fgene.2022.932760

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