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ODP208 Hypoglycemia as a Presenting Feature of McArdle's Disease

INTRODUCTION: McArdle's disease (glycogen storage disease type V) is an autosomal recessive disease caused by mutations in the gene encoding for the muscle isoform of glycogen phosphorylase (PYGM). Characteristic symptoms include exercise intolerance, myalgia, muscle stiffness. Approximately ha...

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Detalles Bibliográficos
Autores principales: Zare, Ahmad, Singh, Ishita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627962/
http://dx.doi.org/10.1210/jendso/bvac150.660