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Congenital disorder of glycosylation type 1B

Known as: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib, SLSJ SYNDROME, CDG, GASTROINTESTINAL TYPE 
National Institutes of Health

Related topics

Related topics

15 relations
Antithrombin III DeficiencyAutosomal recessive inheritanceDiarrheaFactor XI Deficiency

Broader (2)

Congenital Disorders of GlycosylationMannose-6-Phosphate Isomerase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Congenital disorders of N-linked glycosylation
  • M. Patterson
  • Rosenberg's Molecular and Genetic Basis of…
  • 2020
  • Corpus ID: 78687044
Review
2019
Review
2019
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
2017
2017
Congenital Disorders of Glycosylation: A Pipeline to Treatment?
The congenital disorders of glycosylation (CDG) represent a group of autosomal recessive diseases involving at least 15 genes… 
2014
2014
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
2010
2010
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)
MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing… 
2002
2002
CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose hereditärer Ataxien im Erwachsenenalter
ZusammenfassungCDG (congenital disorders of glycosylation) ist eine genetisch bedingte Multisystemerkrankung bedingt durch… 
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