Cargando...
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...
Gardado en:
| Publicado en: | Int J Neonatal Screen |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
MDPI
2020
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7780922/ https://ncbi.nlm.nih.gov/pubmed/33371305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6040096 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|