A carregar...
Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
BACKGROUND: Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the...
Na minha lista:
| Publicado no: | Clin Chem |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5524447/ https://ncbi.nlm.nih.gov/pubmed/28450385 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2016.269027 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|