How to find and diagnose a CDG due to defective N-glycosylation (Q42819977)

8 November 2017

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

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8 November 2017

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Dirk J Lefeber

1

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8 November 2017

Eva Morava

series ordinal

2

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8 November 2017

Jaak Jaeken

series ordinal

3

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8 November 2017

8 July 2011

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Journal of Inherited Metabolic Disease

8 November 2017

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8 November 2017

34

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8 November 2017

849-852

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8 November 2017

4

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9370-0

8 November 2017

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cites work

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Congenital disorders of glycosylation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137781

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21739167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9370-0

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Dimensions Publication ID

8 November 2017

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8 November 2017

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