[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].
Sign Up to like & getrecommendations! Published in 2022 at "Revista de neurologia"
DOI: 10.33588/rn.7506.2022212
Abstract: INTRODUCTION McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness,… read more here.
Keywords: diagnostic algorithm; disease; four pediatric; mcardle disease ... See more keywords