(Q57727994)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism (English)

1 reference

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17 January 2020

1 reference

1 reference

1 reference

congenital disorder of glycosylation

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mustafa A. Salih

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Fowzan S Alkuraya

7

1 reference

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17 January 2020

2

Dorota Monies

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Fatema Alzahrani

4

1 reference

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17 January 2020

Mais Hashem

5

1 reference

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17 January 2020

Anas M Alazami

1

1 reference

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17 January 2020

language of work or name

English

0 references

publication date

21 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 January 2020

published in

1 reference

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17 January 2020

volume

158A

1 reference

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17 January 2020

issue

1

1 reference

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17 January 2020

page(s)

245-246

1 reference

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Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34347

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34347

Carbohydrate-deficient glycoprotein syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34347

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34347

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22105986%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference