(Q77422075)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234618%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Carbohydrate-deficient glycoprotein syndrome type 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234618%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

H Engelhardt

1

1 reference

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5 December 2019

M Staudt

2

1 reference

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5 December 2019

A Hässler

3

1 reference

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5 December 2019

U Holzbach

4

1 reference

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5 December 2019

P Freisinger

5

1 reference

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5 December 2019

I Krägeloh-Mann

6

1 reference

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5 December 2019

publication date

1 April 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234618%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 December 2019

published in

1 reference

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5 December 2019

volume

22

1 reference

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5 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234618%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

192-193

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005422610091

5 December 2019

exact match

0 references

cites work

A new variant of the carbohydrate deficient glycoproteins 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

Carbohydrate-deficient glycoprotein syndrome type II

1 reference

12 December 2020

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

1 reference

12 December 2020