Title: | Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry |
Journal : | Molecular genetics and metabolism, 113, 1-2 |
Authors: | Kishnani PS ; Amartino HM ; Lindberg C ; Miller TM ; Wilson A ; Keutzer J |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 84 |
Languages: | English |
Keywords : | acid alpha-glucosidase ; blood ; cross-sectional study ; diagnosis ; late-onset Pompe disease ; patient registers ; Pompe disease ; retrospective studies |
Keywords: | Diagnosis;Dried blood spots;GAA enzyme assays;Lysosomal storage disorder;Pompe disease;Registry; |
Pubmed / DOI : | DOI : 10.1016/j.ymgme.2014.07.014 / Pubmed : 25085280 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25085280 |
See also : |