Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? (Q28248868)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25267339%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Stefen Brady

2

1 reference

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4 June 2020

Annamaria Ciranni

4

1 reference

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4 June 2020

Federica Montagnese

5

1 reference

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4 June 2020

M'hammed Aguennouz

6

1 reference

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4 June 2020

Richard Kirk

7

1 reference

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4 June 2020

Elizabeth Allen

8

1 reference

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4 June 2020

Richard Godfrey

9

1 reference

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4 June 2020

Sara Romeo

10

1 reference

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4 June 2020

Elaine Murphy

11

1 reference

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4 June 2020

Ros Quinlivan

13

1 reference

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4 June 2020

Antonio Toscano

14

1 reference

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4 June 2020

language of work or name

English

0 references

publication date

December 2014

0 references

published in

Journal of Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25267339%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25267339%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

2424-2428

1 reference

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4 June 2020

issue

12

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-014-7512-7

4 June 2020

exact match

0 references

cites work

Structure of human alpha-enolase (hENO1), a multifunctional glycolytic enzyme

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Enolase: human tissue distribution and evidence for three different loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

New insights in the field of muscle glycogenoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Neuromuscular disorders of glycogen metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

McArdle disease: a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Muscle phosphoglycerate mutase deficiency revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

The gene for the muscle-specific enolase is on the short arm of human chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Molecular structure of the human muscle-specific enolase gene (ENO3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Effects of the G376E and G157D mutations on the stability of yeast enolase--a model for human muscle enolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7512-7

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25267339

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-014-7512-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25267339%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 June 2020

1050797420

0 references

Fatcat ID

release_qnoynedpc5h7jpvb2mmtmjdzxm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qnoynedpc5h7jpvb2mmtmjdzxm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference