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

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Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

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

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

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

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

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

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

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

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P1476

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

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Imad M Dweikat

http://www.w3.org/2001/XMLSchema#string

Samer Abdelrazeq

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Suhail Ayesh

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Tawfeeq Jundi

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P2860

The 3-methylglutaconic acidurias: what's new?

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

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

Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

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.

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

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

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

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

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1053-1056

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scholarly article

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10.1177/0883073814541474

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P478

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2014-07-22T00:00:00Z

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25051967

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

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P2860

P2860

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

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P1433

P1476

P2093

P2860

P304

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P356

P433

P478

P577

P698

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P1433

P1476

P2093

P2860

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P433

P478

P577

P698