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

Internet

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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