Treatment Dilemma in Children with Late-Onset Pompe Disease

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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Bibliographic Details
Main Authors: Martha Caterina Faraguna, Viola Crescitelli, Anna Fornari, Silvia Barzaghi, Salvatore Savasta, Thomas Foiadelli, Daniele Veraldi, Matteo Paoletti, Anna Pichiecchio, Serena Gasperini
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
glycogen storage disease type 2
Pompe disease
late onset
muscle MRI
Enzyme Replacement Therapy
Online Access:https://www.mdpi.com/2073-4425/14/2/362

Internet

https://www.mdpi.com/2073-4425/14/2/362

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