(Q48667000)

14 February 2018

title

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. (English)

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14 February 2018

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7

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Carlo Dionisi-Vici

object named as

C Dionisi-Vici

10

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author name string

J Jaeken

1

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14 February 2018

W Vleugels

2

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14 February 2018

L Régal

3

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14 February 2018

C Corchia

4

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14 February 2018

N Goemans

5

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14 February 2018

M A Haeuptle

6

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T Hennet

8

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G Matthijs

9

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14 February 2018

publication date

24 October 2009

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14 February 2018

Journal of Inherited Metabolic Disease

published in

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14 February 2018

volume

32 Suppl 1

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14 February 2018

page(s)

S335-8

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14 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-009-1297-3

exact match

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cites work

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Does Rft1 flip an N-glycan lipid precursor?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Genetic defects in the human glycome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/19856127

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Congenital disorders of glycosylation: a rapidly expanding disease family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

CDG nomenclature: time for a change!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

Suppression of Rft1 expression does not impair the transbilayer movement of Man5GlcNAc2-P-P-dolichol in sealed microsomes from yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

A genetic approach to understanding auditory function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

RFT1 deficiency in three novel CDG patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1297-3

10.1007/S10545-009-1297-3

21 January 2018

Identifiers

DOI

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14 February 2018

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14 February 2018