Carbohydrate deficient glycoprotein (CDG) syndrome type I (Q33678333)

28 July 2017

title

Carbohydrate deficient glycoprotein (CDG) syndrome type I (English)

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28 July 2017

Jaeken J

1

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28 July 2017

Matthijs G

series ordinal

2

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28 July 2017

Barone R

series ordinal

3

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28 July 2017

Carchon H

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 January 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

1

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28 July 2017

page(s)

73-76

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Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

The carbohydrate-deficient glycoprotein syndromes: an overview

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

The yeast SEC53 gene encodes phosphomannomutase.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050850

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

30 October 2018

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome with previously unreported features

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12 December 2020

Enzymes Involved in the Synthesis of Mannose-6-phosphate from Glucose Are Normal in Carbohydrate Deficient Glycoprotein Syndrome Fibroblasts

1 reference

12 December 2020

Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence

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12 December 2020

Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome

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12 December 2020

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

1 reference

12 December 2020

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

1 reference

12 December 2020

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

1 reference

12 December 2020

Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5)

1 reference

12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.1.73

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28 July 2017

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28 July 2017

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