Title: | Later-onset Pompe disease : early detection and early treatment initiation enabled by newborn screening |
Journal : | Journal of pediatrics (The), 158, 6,.e1 |
Authors: | Chien YH ; Lee NC ; Huang HJ ; Thurberg BL ; Tsai FJ ; Hwu WL |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 1023-1027 |
Languages: | English |
Keywords : | acid alpha-glucosidase ; cohort studies ; creatine kinase ; début tardif de la maladie ; early diagnosis ; enzyme activity ; GAA gene ; genetic mutations ; glycogen ; late-onset Pompe disease ; lipids ; motor skills ; muscle biopsies ; neonatal screening ; Pompe disease ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21232767 |
Pubmed / DOI : | DOI : 10.1016/j.jpeds.2010.11.053 |