Title: | Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report |
Journal : | Journal of medical case reports, 12, 1 |
Authors: | Adadi N, Author ; Adadi N ; Sahli M ; Egea G ; Ratbi I ; Taoudi M ; Zniber L ; Jdioui W ; El Mouatassim S ; Sefiani A |
Material Type: | Article |
Publication Date: | 2018 |
Languages: | English |
Keywords: | GAA gene;Moroccan family;Pompe disease;Post-mortem diagnosis; |
Pubmed / DOI : | DOI : 10.1186/s13256-018-1855-0 / Pubmed : 30371346 |
N° Profil MNM : | 2018102 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30371346 |