Skip to search formSkip to main contentSkip to account menu

Congenital disorder of glycosylation type 1A

Known as: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia, Congenital Disorder of Glycosylation Type Ia, CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY 
A congenital disorder of glycosylation sub-type caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2.
National Institutes of Health

Related topics

Related topics

32 relations
Antithrombin III DeficiencyAtaxiaAutosomal recessive inheritanceCardiomyopathies

Broader (2)

Congenital Disorders of Glycosylationphosphomutase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Congenital disorders of glycosylation.
Highly Cited
2011
Highly Cited
2011
Neuropsychological outcome of NTBC‐treated patients with tyrosinaemia type 1
Corinne De Laet, Vanessa Terrones Munoz, Jaak Jaeken, Baudouin FranAois, Dietbrandt Carton, Etienne M Sokal, Bernard Dan… 
Highly Cited
2010
Highly Cited
2010
Posterior fossa imaging in 158 children with ataxia.
2010
2010
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement… 
Highly Cited
2009
Highly Cited
2009
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
The congenital disorders of glycosylation (CDG) are a group of diseases caused by genetic defects affecting N‐glycosylation. The… 
Review
2009
Review
2009
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.
Highly Cited
2006
Highly Cited
2006
The X-ray Crystal Structures of Human α-Phosphomannomutase 1 Reveal the Structural Basis of Congenital Disorder of Glycosylation Type 1a*
Congential disorder of glycosylation type 1a (CDG-1a) is a congenital disease characterized by severe defects in nervous system… 
Highly Cited
2001
Highly Cited
2001
Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse.
BACKGROUND Isoforms of transferrin interfere with measurement of carbohydrate-deficient transferrin (CDT) as a marker of heavy… 
Highly Cited
1998
Highly Cited
1998
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder… 
Highly Cited
1997
Highly Cited
1997
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)