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| 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 : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| ESTHER : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| 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 : Valayannopoulos_2017_Mol.Genet.Metab_120_62 |
| ESTHER : Valayannopoulos_2017_Mol.Genet.Metab_120_62 |
| PubMedSearch : Valayannopoulos_2017_Mol.Genet.Metab_120_62 |
| PubMedID: 27876313 |
| Title : A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency - Burton_2015_N.Engl.J.Med_373_1010 |
| Author(s) : Burton BK , Balwani M , Feillet F , Baric I , Burrow TA , Camarena Grande C , Coker M , Consuelo-Sanchez A , Deegan P , Di Rocco M , Enns GM , Erbe R , Ezgu F , Ficicioglu C , Furuya KN , Kane J , Laukaitis C , Mengel E , Neilan EG , Nightingale S , Peters H , Scarpa M , Schwab KO , Smolka V , Valayannopoulos V , Wood M , Goodman Z , Yang Y , Eckert S , Rojas-Caro S , Quinn AG |
| Ref : N Engl J Med , 373 :1010 , 2015 |
| Abstract : Burton_2015_N.Engl.J.Med_373_1010 |
| ESTHER : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedSearch : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedID: 26352813 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical Features of Lysosomal Acid Lipase Deficiency - Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| Author(s) : Burton BK , Deegan PB , Enns GM , Guardamagna O , Horslen S , Hovingh GK , Lobritto SJ , Malinova V , McLin VA , Raiman J , Di Rocco M , Santra S , Sharma R , Sykut-Cegielska J , Whitley CB , Eckert S , Valayannopoulos V , Quinn AG |
| Ref : J Pediatr Gastroenterol Nutr , 61 :619 , 2015 |
| Abstract : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| ESTHER : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedSearch : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedID: 26252914 |
| Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135 |
| Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG |
| Ref : Journal of Hepatology , 61 :1135 , 2014 |
| Abstract : Valayannopoulos_2014_J.Hepatol_61_1135 |
| ESTHER : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedID: 24993530 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease - Balwani_2013_Hepatology_58_950 |
| Author(s) : Balwani M , Breen C , Enns GM , Deegan PB , Honzik T , Jones S , Kane JP , Malinova V , Sharma R , Stock EO , Valayannopoulos V , Wraith JE , Burg J , Eckert S , Schneider E , Quinn AG |
| Ref : Hepatology , 58 :950 , 2013 |
| Abstract : Balwani_2013_Hepatology_58_950 |
| ESTHER : Balwani_2013_Hepatology_58_950 |
| PubMedSearch : Balwani_2013_Hepatology_58_950 |
| PubMedID: 23348766 |