Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression (Q35596452)

9 August 2017

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression (English)

1 reference

9 August 2017

Hélène Ogier de Baulny

7

object named as

Hélène Ogier de Baulny

1 reference

9 August 2017

8

Katrin Õunap

1 reference

9 August 2017

Jolanta Sykut-Cegielska

5

object named as

Jolanta Sykut-Cegielska

1 reference

9 August 2017

Samira Achouitar

1

1 reference

9 August 2017

Miski Mohamed

2

1 reference

9 August 2017

Thatjana Gardeitchik

3

1 reference

9 August 2017

Saskia B Wortmann

4

1 reference

9 August 2017

Regina Ensenauer

6

1 reference

9 August 2017

Diego Martinelli

9

1 reference

9 August 2017

Maaike de Vries

10

1 reference

9 August 2017

Robert McFarland

11

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9 August 2017

Dorus Kouwenberg

12

1 reference

9 August 2017

Miranda Theodore

13

1 reference

9 August 2017

Frits Wijburg

14

1 reference

9 August 2017

Stephanie Grünewald

15

1 reference

9 August 2017

Jaak Jaeken

16

1 reference

9 August 2017

Ron A Wevers

17

1 reference

9 August 2017

Leo Nijtmans

18

1 reference

9 August 2017

Joanna Elson

19

1 reference

9 August 2017

Eva Morava

20

1 reference

9 August 2017

4 May 2011

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Journal of Inherited Metabolic Disease

9 August 2017

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9 August 2017

34

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9 August 2017

923-927

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9 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9325-5

9 August 2017

0 references

cites work

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

A scale to monitor progression and treatment of mitochondrial disease in children.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

27 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

Clinical manifestations in children with mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

Depressive behaviour in children diagnosed with a mitochondrial disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9325-5

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232068

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21541726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial disease criteria: Diagnostic applications in children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21541726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9325-5

1 reference

9 August 2017

1 reference

9 August 2017

1 reference