(Q34700719)

English

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype (English)

1 reference

Europe PubMed Central

4 August 2017

congenital disorder

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1 reference

based on heuristic

inferred from title

congenital disorder of glycosylation type Ia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

19

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Valérie Cormier-Daire

16

object named as

Valérie Cormier-Daire

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object named as

Nathalie Seta

20

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Delphine Héron

21

object named as

Delphine Héron

1 reference

Europe PubMed Central

4 August 2017

author name string

Marie-Lorraine Monin

1

1 reference

Europe PubMed Central

4 August 2017

Cyril Mignot

2

1 reference

Europe PubMed Central

4 August 2017

Pascale De Lonlay

3

1 reference

Europe PubMed Central

4 August 2017

Bénédicte Héron

4

1 reference

Europe PubMed Central

4 August 2017

Alice Masurel

5

1 reference

Europe PubMed Central

4 August 2017

Michèle Mathieu-Dramard

6

1 reference

Europe PubMed Central

4 August 2017

Catherine Lenaerts

7

1 reference

Europe PubMed Central

4 August 2017

Christel Thauvin

8

1 reference

Europe PubMed Central

4 August 2017

Marion Gérard

9

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Europe PubMed Central

4 August 2017

Emmanuel Roze

10

1 reference

Europe PubMed Central

4 August 2017

Aurélia Jacquette

11

1 reference

Europe PubMed Central

4 August 2017

Perrine Charles

12

1 reference

Europe PubMed Central

4 August 2017

Claire de Baracé

13

1 reference

Europe PubMed Central

4 August 2017

Valérie Drouin-Garraud

14

1 reference

Europe PubMed Central

4 August 2017

Philippe Khau Van Kien

15

1 reference

Europe PubMed Central

4 August 2017

Michèle Mayer

17

1 reference

Europe PubMed Central

4 August 2017

Hélène Ogier

18

1 reference

Europe PubMed Central

4 August 2017

publication date

11 December 2014

1 reference

Europe PubMed Central

4 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

4 August 2017

9

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Europe PubMed Central

4 August 2017

207

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Europe PubMed Central

4 August 2017

copyright license

Creative Commons Attribution 4.0 International

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s13023-014-0207-4

0 references

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Thrombotic complications in patients with PMM2-CDG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

The skeletal manifestations of the congenital disorders of glycosylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266234

7 July 2018

On the nomenclature of congenital disorders of glycosylation (CDG).

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0207-4

21 January 2018

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25497157

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-014-0207-4

1 reference

Europe PubMed Central

4 August 2017

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0 references

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

ResearchGate publication ID

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