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CONGENITAL DISORDER OF DEGLYCOSYLATION

Known as: CDDG, CDG1V, FORMERLY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY 
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal… 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceDevelopmental delay (disorder)Involuntary MovementsLiver Dysfunction

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Accuracy of diagnostic classification and clinical utility assessment of ICD-11 compared to ICD-10 in 10 mental disorders: findings from a web-based field study
In this web-based field study, we compared the diagnostic accuracy and clinical utility of 10 selected mental disorders between… 
2019
2019
Hydrolyzation of mogrosides: Immobilized β‐glucosidase for mogrosides deglycosylation from Lo Han Kuo
Abstract An immobilized enzyme system for bioconversion of Lo Han Kuo (LHK) mogrosides was established. β‐Glucosidase which was… 
Review
2012
Review
2012
A practical prototypic system for psychiatric diagnosis: the ICD‐11 Clinical Descriptions and Diagnostic Guidelines
2012
2012
Abnormal miR-148 b Expression Promotes Aberrant Glycosylation of IgA 1 in IgA Nephropathy
Aberrant O-glycosylation in the hinge region of IgA1 characterizes IgA nephropathy. The mechanisms underlying this abnormal… 
Highly Cited
2008
Highly Cited
2008
Impact of beef cattle diets containing corn or sorghum distillers grains on beef color, fatty acid profiles, and sensory attributes.
Strip loins from 236 carcasses from crossbred yearling steers were collected on each of 2 slaughter dates (slaughter 1 or 2) to… 
Review
2008
Review
2008
Clinicians' understanding of International Statistical Classification of Diseases and Related Health Problems, 10th Revision diagnostic criteria: F62.0 enduring personality change after catastrophic…
Review
2007
Review
2007
Cholesterol Potentiates ABCG 2 Activity in a Heterologous Expression System : Improved in Vitro Model to Study Function of Human ABCG 2
ABCG2, a transporter of the ATP-binding cassette family, is known to play a prominent role in the absorption, distribution… 
Highly Cited
2006
Highly Cited
2006
Characterization of proteinase K-resistant N- and C-terminally truncated PrP in Nor98 atypical scrapie.
An increasing number of scrapie cases with atypical characteristics, designated Nor98, have recently been recognized. Here, the… 
Highly Cited
1989
Highly Cited
1989
Ectoenzymes of the kidney microvillar membrane. Affinity purification, characterization and localization of the phospholipase C-solubilized form of renal dipeptidase.
Renal dipeptidase (EC 3.4.13.11) was solubilized from pig kidney microvillar membranes with bacterial phosphatidylinositol… 
Highly Cited
1987
Highly Cited
1987
Isolation of two differentially glycosylated forms of peptidyl-dipeptidase A (angiotensin converting enzyme) from pig brain: a re-evaluation of their role in neuropeptide metabolism.
Peptidyl-dipeptidase A (angiotensin converting enzyme; ACE, EC 3.4.15.1), has been purified from pig kidney and striatum by… 
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