Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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scientific article published on 19 July 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Clinical, biochemical and gene ...... vin supplementation effective?

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Agnes Rötig

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Alberto Burlina

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An Jonckheere

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Anna Ardissone

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Anne Lombès

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Arnold Munnich

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Birgit M Repp

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Boris Rolinski

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Charlotte L Alston

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Daniele Ghezzi

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P2860

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

Analysis of protein-coding genetic variation in 60,706 humans

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Blue native PAGE

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.

Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

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s13023-018-0784-8

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120

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scholarly article

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10.1186/S13023-018-0784-8

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English

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2018-07-19T00:00:00Z

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1105710648

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30025539

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6053715

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