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List of works by Anne Lombès

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

scientific article published on 19 July 2018

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue

scientific article published on 15 July 2020

Hypoxia Promotes Mitochondrial Complex I Abundance via HIF-1α in Complex III and Complex IV Eficient Cells

scientific article published on 29 September 2020

Kinetic analysis of ATP hydrolysis by complex V in four murine tissues: Towards an assay suitable for clinical diagnosis

scientific article published on 28 August 2019

Mitochondrial stress response triggered by defects in protein synthesis quality control

scientific article published on 25 January 2019

MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis

scientific article published on 22 December 2018

Oxidation of hydrogen sulfide by human liver mitochondria.

scientific article published on 11 June 2014

Use of H<sub>2</sub>O<sub>2</sub> to Cause Oxidative Stress, the Catalase Issue

scientific article published on 30 November 2020

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

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