Infantile-onset Pompe disease with neonatal debut: A case report and literature review

RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early...

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Detalles Bibliográficos
Autores principales: Martínez, Miriam, Romero, Mar García, Guereta, Luis García, Cabrera, Marta, Regojo, Rita M., Albajara, Luis, Couce, Maria L., de Pipaon, Miguel Saenz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758162/
https://www.ncbi.nlm.nih.gov/pubmed/29390460
http://dx.doi.org/10.1097/MD.0000000000009186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758162/
https://www.ncbi.nlm.nih.gov/pubmed/29390460
http://dx.doi.org/10.1097/MD.0000000000009186

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