Treatment Dilemma in Children with Late-Onset Pompe Disease

In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therapy (ERT) in patients without any clinical sign of t...

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Detalles Bibliográficos
Autores principales: Faraguna, Martha Caterina, Crescitelli, Viola, Fornari, Anna, Barzaghi, Silvia, Savasta, Salvatore, Foiadelli, Thomas, Veraldi, Daniele, Paoletti, Matteo, Pichiecchio, Anna, Gasperini, Serena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957524/
https://www.ncbi.nlm.nih.gov/pubmed/36833288
http://dx.doi.org/10.3390/genes14020362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957524/
https://www.ncbi.nlm.nih.gov/pubmed/36833288
http://dx.doi.org/10.3390/genes14020362

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