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| Title : Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99 |
| Author(s) : Wortmann SB , Espeel M , Almeida L , Reimer A , Bosboom D , Roels F , de Brouwer AP , Wevers RA |
| Ref : J Inherit Metab Dis , 38 :99 , 2015 |
| Abstract : Wortmann_2015_J.Inherit.Metab.Dis_38_99 |
| ESTHER : Wortmann_2015_J.Inherit.Metab.Dis_38_99 |
| PubMedSearch : Wortmann_2015_J.Inherit.Metab.Dis_38_99 |
| PubMedID: 25178427 |
| 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 |