At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA, EC 3.2.1.20), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal, and smooth muscle, and the nervous system. It is generally classi...

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Detalles Bibliográficos
Autores principales: Lukacs, Zoltan, Oliva, Petra, Nieves Cobos, Paulina, Scott, Jacob, Mechtler, Thomas P., Kasper, David C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7780922/
https://www.ncbi.nlm.nih.gov/pubmed/33371305
http://dx.doi.org/10.3390/ijns6040096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7780922/
https://www.ncbi.nlm.nih.gov/pubmed/33371305
http://dx.doi.org/10.3390/ijns6040096

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