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

Abstract 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 li...

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Hauptverfasser:	Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang, Xiuzhen Li, Ruidan Zheng, Li Liu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2022-05-01
Schriftenreihe:	BMC Pediatrics
Schlagworte:	Glycogen storage disease PHKG2 Phosphorylase b kinase Case report
Online-Zugang:	https://doi.org/10.1186/s12887-021-03055-7
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