Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defect...

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Detalles Bibliográficos
Autores principales: Al-Sharif, Fawzia, Alamer, Mohammed F, Taher, Hussein O, Gazzaz, Raneem Y, AlRuwaithi, Asma O, Miliany, Tuleen T, Alrufaihi, Mohammed A, Al Amer, Abdullah F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239288/
https://www.ncbi.nlm.nih.gov/pubmed/35775064
http://dx.doi.org/10.7759/cureus.26345

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