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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

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Regulation of Nod1 and Nod2 in first trimester trophoblast cells.
PROBLEM The cytoplasmic pattern recognition receptors, Nod1 and Nod2, are thought to be important for detecting intracellular… 
2009
2009
NOD1 expression in the eye and functional contribution to IL-1beta-dependent ocular inflammation in mice.
PURPOSE NOD1 plays an important role in host defense and recognizes the minimal component of bacterial cell walls, meso… 
2008
2008
Mining clinical relationships from patient narratives
BackgroundThe Clinical E-Science Framework (CLEF) project has built a system to extract clinically significant information from… 
2007
2007
A Role of Lipophilic Peptidoglycan-related Molecules in Induction of Nod1-mediated Immune Responses*
Nod1 is an intracellular protein that is involved in recognition of bacterial molecules and whose genetic variation has been… 
2001
2001
Assessment of Clinical Competence: Designing a Competence Grid for Junior Pharmacists
Aim. This paper describes the development of a competency framework for clinical practice undertaken by junior pharmacists… 
1996
1996
Computer based quantitative analysis of capillary abnormalities in systemic sclerosis and its relation to plasma concentration of von Willebrand factor.
OBJECTIVES--To evaluate an objective and quantitative method for assessment of capillary abnormalities in systemic sclerosis (SSc… 
1992
1992
The learing curve for intraoperative echocardiography during congenital heart surgery
1989
1989
Implementation of macrocycle conjugated antibodies for tumour-targetting
Abstract 
1988
1988
CLINICAL TRIALS WITH HALOFANTRINE HYDROCHLORIDE IN MALAWI
1976
1976
Semiconductor Electrodes VIII . Digital Simulation of Open‐Circuit Photopotentials
A simulation technique is described for the calculation of semiconductor electrode properties at steady state, e.g., at… 
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