Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and better outcomes, especially with more severe forms. We...

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Detalles Bibliográficos
Autores principales: Gragnaniello, Vincenza, Pijnappel, Pim W.W.M., Burlina, Alessandro P., In 't Groen, Stijn L.M., Gueraldi, Daniela, Cazzorla, Chiara, Maines, Evelina, Polo, Giulia, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9597184/
https://www.ncbi.nlm.nih.gov/pubmed/36310651
http://dx.doi.org/10.1016/j.ymgmr.2022.100929

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