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| Title : Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency - Yoldas_2024_Nutr.Metab.Cardiovasc.Dis__ |
| Author(s) : Yoldas Celik M , Canda E , Yazici H , Erdem F , Yuksel Yanbolu A , Atik Altinok Y , Pariltay E , Akin H , Kalkan Ucar S , Coker M |
| Ref : Nutr Metab Cardiovasc Dis , : , 2024 |
| Abstract : Yoldas_2024_Nutr.Metab.Cardiovasc.Dis__ |
| ESTHER : Yoldas_2024_Nutr.Metab.Cardiovasc.Dis__ |
| PubMedSearch : Yoldas_2024_Nutr.Metab.Cardiovasc.Dis__ |
| PubMedID: 38503616 |
| 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 |