scholarly journals Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

2012 ◽  
pp. 145-152 ◽  
Author(s):  
R. Zeevaert ◽  
F. de Zegher ◽  
L. Sturiale ◽  
D. Garozzo ◽  
M. Smet ◽  
...  
Keyword(s):  
Bone Dysplasia ◽  
Splice Mutation ◽  
Congenital Disorder ◽  
Type Ii ◽  
Congenital Disorder Of Glycosylation

scholarly journals Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

2006 ◽  
Vol 103 (10) ◽  
pp. 3764-3769 ◽  
Author(s):  
F. Foulquier ◽  
E. Vasile ◽  
E. Schollen ◽  
N. Callewaert ◽  
T. Raemaekers ◽  
...  
Keyword(s):  
Golgi Complex ◽  
Congenital Disorder ◽  
Type Ii ◽  
Congenital Disorder Of Glycosylation ◽  
Conserved Oligomeric Golgi Complex ◽  
Conserved Oligomeric Golgi

scholarly journals Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

2019 ◽  
Vol 492 ◽  
pp. 102-113 ◽  
Author(s):  
E.A. Barbosa ◽  
N. do C. Fontes ◽  
S.C.L. Santos ◽  
D.J. Lefeber ◽  
C. Bloch ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Congenital Disorder ◽  
Type Ii ◽  
Relative Quantification ◽  
Congenital Disorder Of Glycosylation

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

2009 ◽  
Vol 30 (5) ◽  
pp. 795-803 ◽  
Author(s):  
Ana I. Vega ◽  
Celia Pérez-Cerdá ◽  
Lourdes R. Desviat ◽  
Gert Matthijs ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
New Therapy ◽  
Splicing Mutations ◽  
Type Ia

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

2006 ◽  
Vol 148 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Steven M. Schade van Westrum ◽  
Paul J. Nederkoorn ◽  
P. Richard Schuurman ◽  
Tom Vulsma ◽  
Marinus Duran ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

scholarly journals Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

2021 ◽  
Author(s):  
Daniel L. Polla ◽  
Andrew C. Edmondson ◽  
Sandrine Duvet ◽  
Michael E. March ◽  
Ana Berta Sousa ◽  
...  
Keyword(s):  
Quality Control ◽  
Congenital Disorder ◽  
Er Quality Control ◽  
Allelic Variants ◽  
Congenital Disorder Of Glycosylation
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