NCMLS in the Spotlight: 19 March 2012

NCMLS in the Spotlight

Date:
19 March 2012
Time:
17:00 hrs.
Location:
Auditorium, route 296
Title:
The subtleties of sweets
Host(s):

Departments of Neurology and Laboratory Medicine, RUNMC, Nijmegen     



Remarks / more information:

 

17.00 - 17.15   

The specificity of protein glycosylation: an introduction to genetic glycosylation disorders

Dr. Dirk J. Lefeber

                 

17.15 - 17.40    

Unraveling the cause of non-syndromal dilated cardiomyopathy, a unique presentation in the congenital disorders of protein N-glycosylation

Drs. Moniek Riemersma 

 

17.40 - 17.50   

Clinical and biochemical implications of the novel findings

Dr. Dirk J. Lefeber

 

Departments of Neurology and Laboratory Medicine, RUNMC, Nijmegen       

 

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-MannosylationDirk J. Lefeber, Arjan P. M. de Brouwer, Eva Morava, Moniek Riemersma, Janneke H. M. Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M. R. van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A. Wevers

PLoS Genetics: Research Article, published 29 Dec 2011 10.1371/journal.pgen.1002427



<< back to all events