(Q80186646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons (English)

1 reference

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29 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

1 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

16

1 reference

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29 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

2-4

1 reference

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Congenital disorders of glycosylation: a rapidly expanding disease family

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Genetic defects in the human glycome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Defective protein glycosylation in patients with cutis laxa syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201962

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201962

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075505%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference