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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
2017
Review
2017
PMM2-CDG and sensorineural hearing loss
Dear editor, A two-year-old boy was referred for evaluation of psychomotor disability, hypotonia, and sensorineural deafness… 
2015
2015
ReportA novel mutation and first report of dilated cardiomyopathy in ALG 6-CDG ( CDG-Ic ) : a case report
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement… 
2014
2014
Editorial Board
2013
2013
Editorial Board
2012
2012
Child Neurology: A case of PMM2-CDG (CDG 1a) presenting with unusual eye movements
Congenital disorders of glycosylation encompass a group of diseases resulting from abnormal protein glycosylation. This group… 
2011
2011
Editorial Board
2006
2006
Ataxia cerebelosa de Norman-Jaeken: Presentación de siete pacientes españoles
Objetivo. Mostrar que las ataxias cerebelosas descritas por Norman y por Jaeken (CDG1a) son el mismo trastorno. Pacientes y… 
2006
2006
[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].
AIM To show that the cerebellar ataxias described by Norman and by Jaeken (CDG1a) are the same disease. PATIENTS AND METHODS… 
2001
2001
Congenitale defecten van de glycosylering (cdg) anno 2000
SummaryCongenital defects of glycosylation (cdg) \are a family of genetic defects in the metabolism of the carbohydrate moiety of… 
2000
2000
Congenital disorder of glycosylation-Ic: case report and genetic defect.
The clinical phenotype and the molecular defect of a patient with a new subtype of congenital disorders of glycosylation (CDG-Ic… 
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