(Q33732436)

29 July 2017

title

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

1 reference

29 July 2017

1 reference

Stibler H

1

1 reference

29 July 2017

Blennow G

2

1 reference

29 July 2017

Kristiansson B

3

1 reference

29 July 2017

Lindehammer H

4

1 reference

29 July 2017

Hagberg B

5

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29 July 2017

language of work or name

English

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publication date

1 May 1994

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

published in

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29 July 2017

volume

57

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29 July 2017

issue

5

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29 July 2017

page(s)

552-556

1 reference

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

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Disialotransferrin developmental deficiency syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

A new variant of the carbohydrate deficient glycoproteins syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

The carbohydrate deficient glycoprotein syndrome in three Japanese children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072913

Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8201322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.57.5.552

1 reference

29 July 2017

1 reference

29 July 2017

1 reference