Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopathy, hypotony, feeding difficulties, and oxygen requirement since bi...

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Detalles Bibliográficos
Autores principales: Cerón‐Rodríguez, Magdalena, Castillo‐García, Daniela, Acosta‐Rodríguez‐Bueno, Carlos‐Patricio, Aguirre‐Hernández, Jesús, Murillo‐Eliosa, Juan‐Rafael, Valencia‐Mayoral, Pedro, Escobar‐Sánchez, Argelia, Salgado‐Loza, Juan‐Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266604/
https://www.ncbi.nlm.nih.gov/pubmed/35532199
http://dx.doi.org/10.1002/mgg3.1957

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266604/
https://www.ncbi.nlm.nih.gov/pubmed/35532199
http://dx.doi.org/10.1002/mgg3.1957

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