Title: | The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients |
Journal : | Molecular genetics and metabolism reports, 15 |
Authors: | Al-Hassnan ZN, Author ; Al-Hassnan ZN ; Khalifa OA ; Bubshait DK ; Tulbah S ; Alkorashy M ; Alzaidan H ; Alowain M ; Rahbeeni Z ; Al-Sayed M |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 50 |
Languages: | English |
Keywords: | Enzyme replacement therapy;GAA;Glycogen storage disease type II;Pompe disease; |
Pubmed / DOI : | DOI : 10.1016/j.ymgmr.2018.02.001 / Pubmed : 30023291 |
N° Profil MNM : | 2018072 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30023291 |