Report for Santer R

General

Full name :

First name :

Mail :

Zip Code :

City :

Country :

Email :

Phone :

Fax :

Website :

Directory :

References (3)

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 : Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency - Santer_2005_J.Inherit.Metab.Dis_28_137

Author(s) : Santer R , Gokcay G , Demirkol M , Gal A , Lukacs Z

Ref : J Inherit Metab Dis , 28 :137 , 2005

Abstract : Santer_2005_J.Inherit.Metab.Dis_28_137

ESTHER : Santer_2005_J.Inherit.Metab.Dis_28_137

PubMedSearch : Santer_2005_J.Inherit.Metab.Dis_28_137

PubMedID: 15877202

Title : A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia -

Author(s) : Wiebusch H , Funke H , Santer R , Richter W , Assmann G

Ref : Hum Mutat , 8 :392 , 1996

PubMedID: 8956052

Report for Santer R

General

References (3)

1. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

2. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

3. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia