| Title : Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer - Laurent_2025_Commun.Med.(Lond)_5_110 |
| Author(s) : Laurent M , Harb R , Jenny C , Oustelandt J , Jimenez S , Cosette J , Landini F , Ferrante A , Corre G , Vujic N , Piccoli C , Brassier A , Van Wittenberghe L , Ronzitti G , Kratky D , Pacelli C , Amendola M |
| Ref : Commun Med (Lond) , 5 :110 , 2025 |
| Abstract : |
| PubMedSearch : Laurent_2025_Commun.Med.(Lond)_5_110 |
| PubMedID: 40216942 |
| Title : Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study - Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| Author(s) : Jones SA , Rojas-Caro S , Quinn AG , Friedman M , Marulkar S , Ezgu F , Zaki O , Gargus JJ , Hughes J , Plantaz D , Vara R , Eckert S , Arnoux JB , Brassier A , Le Quan Sang KH , Valayannopoulos V |
| Ref : Orphanet J Rare Dis , 12 :25 , 2017 |
| Abstract : |
| PubMedSearch : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| PubMedID: 28179030 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal acid lipase deficiency: Expanding differential diagnosis - Valayannopoulos_2017_Mol.Genet.Metab_120_62 |
| Author(s) : Valayannopoulos V , Mengel E , Brassier A , Grabowski G |
| Ref : Mol Genet Metab , 120 :62 , 2017 |
| Abstract : |
| PubMedSearch : Valayannopoulos_2017_Mol.Genet.Metab_120_62 |
| PubMedID: 27876313 |