Genotypephenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

BACKGROUND: Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid -glucosidase gene (GAA) that produces defects in the lysosomal acid -1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to establish g...

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Detalles Bibliográficos
Autores principales: Hernndez-Arvalo, Paula, Santotoribio, Jos D., Delarosa-Rodrguez, Roco, Gonzlez-Meneses, Antonio, Garca-Morillo, Salvador, Jimnez-Arriscado, Pilar, Guerrero, Juan M., Macher, Hada C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139113/
https://www.ncbi.nlm.nih.gov/pubmed/34020684
http://dx.doi.org/10.1186/s13023-021-01864-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139113/
https://www.ncbi.nlm.nih.gov/pubmed/34020684
http://dx.doi.org/10.1186/s13023-021-01864-8

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