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Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History

BACKGROUND: Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and...

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Detalles Bibliográficos
Autores principales:	Lecis, Marco, Rossi, Katia, Guerzoni, Maria Elena, Mariotti, Ilaria, Iughetti, Lorenzo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957634/ https://www.ncbi.nlm.nih.gov/pubmed/36845322 http://dx.doi.org/10.1155/2023/8470341

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