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| Title : Against all odds: blended phenotypes of three single-gene defects - Li_2016_Eur.J.Hum.Genet_24_1274 |
| Author(s) : Li Y , Salfelder A , Schwab KO , Grunert SC , Velten T , Lutjohann D , Villavicencio-Lorini P , Matysiak-Scholze U , Zabel B , Kottgen A , Lausch E |
| Ref : Eur J Hum Genet , 24 :1274 , 2016 |
| Abstract : Li_2016_Eur.J.Hum.Genet_24_1274 |
| ESTHER : Li_2016_Eur.J.Hum.Genet_24_1274 |
| PubMedSearch : Li_2016_Eur.J.Hum.Genet_24_1274 |
| PubMedID: 26813946 |
| Gene_locus related to this paper: human-TG |
| Title : Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status - Krebs_2016_J.Pediatr.Endocrinol.Metab_29_203 |
| Author(s) : Krebs A , Kratzin T , Doerfer J , Winkler K , Wurm M , von der Werf-Grohmann N , Krause A , Schwab KO |
| Ref : J Pediatr Endocrinol Metab , 29 :203 , 2016 |
| Abstract : Krebs_2016_J.Pediatr.Endocrinol.Metab_29_203 |
| ESTHER : Krebs_2016_J.Pediatr.Endocrinol.Metab_29_203 |
| PubMedSearch : Krebs_2016_J.Pediatr.Endocrinol.Metab_29_203 |
| PubMedID: 26501158 |
| 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 |