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| Title : Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency - Burton_2022_J.Pediatr.Gastroenterol.Nutr__ |
| Author(s) : Burton BK , Sanchez AC , Kostyleva M , Martins AM , Marulkar S , Abel F , Baric I |
| Ref : J Pediatr Gastroenterol Nutr , : , 2022 |
| Abstract : Burton_2022_J.Pediatr.Gastroenterol.Nutr__ |
| ESTHER : Burton_2022_J.Pediatr.Gastroenterol.Nutr__ |
| PubMedSearch : Burton_2022_J.Pediatr.Gastroenterol.Nutr__ |
| PubMedID: 35442238 |
| Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98 |
| Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA |
| Ref : Neuropediatrics , 46 :98 , 2015 |
| Abstract : Wortmann_2015_Neuropediatrics_46_98 |
| ESTHER : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedSearch : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedID: 25642805 |
| Gene_locus related to this paper: human-SERAC1 |
| 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 : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797 |
| Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP |
| Ref : Nat Genet , 44 :797 , 2012 |
| Abstract : Wortmann_2012_Nat.Genet_44_797 |
| ESTHER : Wortmann_2012_Nat.Genet_44_797 |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |