Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio

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, myalgias, cramps and contractures or rhabdomyolysis,...

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Detalles Bibliográficos
Autores principales: Vidal-Sanahuja, Ramón, Ortez-González, Carlos I., Nascimento-Osorio, Andrés, Colomer-Oferil, Jaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Viguera Editores (Evidenze Group) 2022
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280752/
https://www.ncbi.nlm.nih.gov/pubmed/36098446
http://dx.doi.org/10.33588/rn.7506.2022212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280752/
https://www.ncbi.nlm.nih.gov/pubmed/36098446
http://dx.doi.org/10.33588/rn.7506.2022212

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