(Q48643319)

13 February 2018

title

MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene. (English)

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13 February 2018

author name string

Imad M Dweikat

1

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13 February 2018

Samer Abdelrazeq

2

1 reference

13 February 2018

Suhail Ayesh

3

1 reference

13 February 2018

Tawfeeq Jundi

4

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13 February 2018

publication date

22 July 2014

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13 February 2018

Journal of Child Neurology

published in

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13 February 2018

volume

30

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13 February 2018

issue

8

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13 February 2018

page(s)

1053-1056

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13 February 2018

3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

The 3-methylglutaconic acidurias: what's new?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814541474

21 January 2018

Identifiers

DOI

10.1177/0883073814541474

1 reference

13 February 2018

PubMed ID

25051967

1 reference

13 February 2018