A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review

Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic ane...

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Detalles Bibliográficos
Autores principales: Baba, Kousuke, Fukuda, Tokiko, Furuta, Mitsuru, Tada, Satoru, Imai, Atsuko, Asano, Yoshihiro, Sugie, Hideo, P. Takahashi, Masanori, Mochizuki, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790788/
https://www.ncbi.nlm.nih.gov/pubmed/35527021
http://dx.doi.org/10.2169/internalmedicine.9221-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790788/
https://www.ncbi.nlm.nih.gov/pubmed/35527021
http://dx.doi.org/10.2169/internalmedicine.9221-21

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