CDG nomenclature: time for a change! (Q35004003)

5 August 2017

CDG nomenclature: time for a change! (English)

1 reference

5 August 2017

Hudson H Freeze

4

0 references

author name string

Jaak Jaeken

series ordinal

1

1 reference

5 August 2017

Thierry Hennet

series ordinal

2

1 reference

5 August 2017

Gert Matthijs

series ordinal

3

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 September 2009

1 reference

Biochimica et Biophysica Acta

5 August 2017

1 reference

5 August 2017

1792

1 reference

5 August 2017

825-826

1 reference

5 August 2017

9

1 reference

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Congenital disorders of glycosylation: a rapidly expanding disease family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Genetic defects in the human glycome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

A new variant of the carbohydrate deficient glycoproteins syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

On the nomenclature of congenital disorders of glycosylation (CDG).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3917312

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19765534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BBADIS.2009.08.005

1 reference

5 August 2017

1 reference

5 August 2017

1 reference