Early diagnosis and pre-symptomatic treatment of infantile-onset Pompe disease: First report from public newborn screening in Brazil

Fabrício M Soares,Gerson Da Silva Carvalho

doi:10.1016/j.ymgme.2024.108953

Early diagnosis and pre-symptomatic treatment of infantile-onset Pompe disease: First report from public newborn screening in Brazil

Fabrício M Soares, Gerson Da Silva Carvalho

https://doi.org/10.1016/j.ymgme.2024.108953

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Journal: Molecular Genetics and Metabolism

Publication Date: Feb 1, 2025

#Screening In Brazil #Early Diagnosis #Public Screening #Diagnosis Of Disease #Treatment Of Disease #Infantile-onset Pompe Disease #Pre-symptomatic Treatment #Newborn Screening

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Early diagnosis and pre-symptomatic treatment of infantile-onset Pompe disease: First report from public newborn screening in Brazil

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Early diagnosis and pre-symptomatic treatment of infantile-onset Pompe disease: First report from public newborn screening in Brazil