(Q36116740)

12 August 2017

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation (English)

1 reference

congenital disorder of glycosylation

12 August 2017

0 references

1 reference

1 reference

1 reference

Jaak Jaeken

1

1 reference

12 August 2017

Dirk Lefeber

series ordinal

2

1 reference

12 August 2017

Gert Matthijs

series ordinal

3

1 reference

12 August 2017

4 February 2015

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

23

1 reference

12 August 2017

10

1 reference

ALG1-CDG: a new case with early fatal outcome

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Congenital disorder of glycosylation: a case presentation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

How to find and diagnose a CDG due to defective N-glycosylation

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592101

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25649379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis in CDG1 families: beware of heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25649379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25649379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.9

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

25649379

1 reference