Pascale de Lonlay

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Yusuke Nakamura, Véronique Paquis-Flucklinger, Arnold Munnich, 2007, Nature Genetics.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy

Abdellah Tebani, Carlos Afonso, Soumeya Bekri, 2017 .