(Q83206075)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

9

1 reference

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20 January 2020

Stuart E H Moore

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Julia Dancourt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sandrine Vuillaumier-Barrot

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Helene Ogier de Baulny

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ignacio Sfaello

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Anne Barnier

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Christianne le Bizec

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Thierry Dupre

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Genevieve Durand

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

26 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641202%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

6

1 reference

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20 January 2020

page(s)

835-839

1 reference

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000219430.52532.8e

20 January 2020

exact match

0 references

cites work

Biological roles of oligosaccharides: all of the theories are correct

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Congenital disorder of glycosylation (CDG) type Ie. A new patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Yeast mannosyl transferases requiring dolichyl phosphate and dolichyl phosphate mannose as substrate. Partial purification and characterization of the solubilized enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

21 January 2018

1 reference

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Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel phospholipase C-gamma regulated gene negatively associated with prostate tumor invasion

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000219430.52532.8E