A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using t...

Descripción completa

Detalles Bibliográficos
Autores principales: Kido, Jun, Mitsubuchi, Hiroshi, Watanabe, Takehisa, Sugawara, Keishin, Sasai, Hideo, Fukao, Toshiyuki, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651689/
https://www.ncbi.nlm.nih.gov/pubmed/34876562
http://dx.doi.org/10.1038/s41439-021-00172-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651689/
https://www.ncbi.nlm.nih.gov/pubmed/34876562
http://dx.doi.org/10.1038/s41439-021-00172-8

Ejemplares similares