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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

Known as: Congenital Disorder of Glycosylation Type Ie, CDG1E, Congenital disorder of glycosylation type 1E 
A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1.
National Institutes of Health

Related topics

Related topics

25 relations
Antithrombin III DeficiencyAutosomal recessive inheritanceBlindness, CorticalCerebellar Ataxia

Broader (1)

Congenital Disorders of Glycosylation

Papers overview

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Review
2014
Review
2014
Mechanisms and management of hypertension in autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease, characterized by progressive… 
Highly Cited
2010
Highly Cited
2010
Clinical characteristics and outcome of infective endocarditis in adults with bicuspid aortic valves: a multicentre observational study
Objective To analyse characteristics and outcomes of infective endocarditis (IE) on bicuspid aortic valves (BAV) and to compare… 
Highly Cited
2008
Highly Cited
2008
Interspecies differences in coagulation profile
Summary Many animals are used in research on blood coagulation and fibrinolysis, but the relevance of animal models to human… 
Review
2006
Review
2006
Inadvertent Enterotomy in Minimally Invasive Abdominal Surgery
Background: Inadvertent enterotomy (IE) in laparoscopic abdominal surgery is underreported. Patients with a prior history of… 
Highly Cited
2005
Highly Cited
2005
Chemically synthesized pathogen‐associated molecular patterns increase the expression of peptidoglycan recognition proteins via toll‐like receptors, NOD1 and NOD2 in human oral epithelial cells
Peptidoglycan recognition proteins (PGRPs), a novel family of pattern recognition molecules (PRMs) in innate immunity conserved… 
Highly Cited
2004
Highly Cited
2004
Risk Factors for Infective Endocarditis in Patients with Enterococcal Bacteremia: A Case-Control Study
Abstract.Background:Based on previous studies, enterococcal infective endocarditis (IE) is considered a unimicrobial, community… 
Review
2002
Review
2002
Comparison between adult endocarditis due to beta-hemolytic streptococci (serogroups A, B, C, and G) and Streptococcus milleri: a multicenter study in France.
BACKGROUND Limited data exist on infective endocarditis (IE) due to Streptococcus milleri (Sm) or beta-hemolytic streptococci… 
Highly Cited
1988
Highly Cited
1988
Differences in cell-type-specific blocks to immediate early gene expression and DNA replication of human, simian and murine cytomegalovirus.
We have previously described blocks to the viral lytic cycle at two different levels in cytomegalovirus (CMV)-infected non… 
Highly Cited
1988
Highly Cited
1988
FIXES, a system for automatic selection of set-ups and design of fixtures
Highly Cited
1980
Highly Cited
1980
Primary Potential and Current Distribution Around a Bubble on an Electrode
An analytical solution for the primary potential and current distribution around a spherical bubble in contact with a plane… 
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