Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes. The biochemical diagnosis is based on GAA activity assays in dried blood spots, leukocytes, or fibroblasts. Diag...

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Detalles Bibliográficos
Autores principales: Niño, Monica Y., Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J., Broeders, Mike, van der Beek, Nadine A. M. E., van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Verheijen, Frans W., Pijnappel, W. W. M. Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940434/
https://www.ncbi.nlm.nih.gov/pubmed/33162552
http://dx.doi.org/10.1038/s41431-020-00752-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940434/
https://www.ncbi.nlm.nih.gov/pubmed/33162552
http://dx.doi.org/10.1038/s41431-020-00752-2

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