Title : Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children - Freudenberg_2013_Z.Gastroenterol_51_1184 |
Author(s) : Freudenberg F , Bufler P , Ensenauer R , Lohse P , Koletzko S |
Ref : Z Gastroenterol , 51 :1184 , 2013 |
Abstract : |
PubMedSearch : Freudenberg_2013_Z.Gastroenterol_51_1184 |
PubMedID: 24122380 |
Title : 2p21 Deletions in hypotonia-cystinuria syndrome - Eggermann_2012_Eur.J.Med.Genet_55_561 |
Author(s) : Eggermann T , Spengler S , Venghaus A , Denecke B , Zerres K , Baudis M , Ensenauer R |
Ref : Eur Journal of Medical Genetics , 55 :561 , 2012 |
Abstract : |
PubMedSearch : Eggermann_2012_Eur.J.Med.Genet_55_561 |
PubMedID: 22766003 |