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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

BACKGROUND: Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease. CASE PRESENTATION: Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive increase in liver tra...

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Detalles Bibliográficos
Autores principales:	Shao, Yongxian, Li, Taolin, Jiang, Minyan, Xu, Jianan, Huang, Yonglan, Li, Xiuzhen, Zheng, Ruidan, Liu, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097106/ https://www.ncbi.nlm.nih.gov/pubmed/35549678 http://dx.doi.org/10.1186/s12887-021-03055-7

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