No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.02.008
Abstract: This case report investigated exercise metabolism and the effect of oral sucrose and intravenous glucose supplementation in a 30-year-old, mildly affected man with muscle phosphorylase b kinase (PHK) deficiency caused by a novel c.586G>A mutation… read more here.
Keywords: effect oral; exercise; deficiency; phosphorylase kinase ... See more keywords
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Internal medicine"
DOI: 10.2169/internalmedicine.8137-21
Abstract: Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. A 16-year-old boy experienced myalgia during the maximal multistage 20-m… read more here.
Keywords: multistage shuttle; maximal multistage; muscle; test ... See more keywords