(Q74031560)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author

Peter Theodore Clayton

1 reference

ORCID Public Data File 2021

author name string

J Charlwood

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

P Clayton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Johnson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G Keir

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

N Mian

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

B Winchester

6

1 reference

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8 November 2019

publication date

1 November 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

817-826

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427152%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005380003902

8 November 2019

exact match

0 references

cites work

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation

1 reference

12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

1 reference

12 December 2020

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

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

12 December 2020

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis

1 reference

12 December 2020

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

1 reference

12 December 2020

Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins

1 reference

12 December 2020

Carbohydrate deficient glycoprotein (CDG) syndrome type I

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020