(Q37156826)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

review article

1 reference

title

The skeletal manifestations of the congenital disorders of glycosylation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

M Irving

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

P Kannu

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

J Jaeken

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

R Savarirayan

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

6 May 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

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7 January 2020

volume

1 reference

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7 January 2020

issue

1 reference

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7 January 2020

page(s)

507-515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18462449%20AND%20SRC:MED&resulttype=core&format=json

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01015.X

Modulation of crystal formation by bone phosphoproteins: role of glutamic acid-rich sequences in the nucleation of hydroxyapatite by bone sialoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01015.X

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01015.X

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01015.X

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01015.X