Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective

Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die within the f...

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Detalles Bibliográficos
Autores principales: Saich, Raymond, Brown, Renee, Collicoat, Maddy, Jenner, Catherine, Primmer, Jenna, Clancy, Beverley, Holland, Tarryn, Krinks, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422966/
https://www.ncbi.nlm.nih.gov/pubmed/33073001
http://dx.doi.org/10.3390/ijns6010001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422966/
https://www.ncbi.nlm.nih.gov/pubmed/33073001
http://dx.doi.org/10.3390/ijns6010001

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