The prevalence of autism spectrum disorder (ASD) around the world continues to increase while the pathophysiology remains insufficiently elucidated. Genetics...

Thèse d’Aline Lamboux pour le Doctorat de l’Université Lyon 1 soutenue le 13 décembre 2021, ENS Lyon.

Depuis une vingtaine d’années, grâce à la grande...

Congrès Wilson Aarhus (Aarhus, Danemark, 5-8 Mai 2022)

Wilson disease (WD) is an autosomal recessive disorder of copper (Cu) metabolism. The gene responsible for WD, ATP7B, is involved in the cellular transport of...

European Journal of Medical Genetics Volume 65, Issue 3, March 2022, 104453

Objective(s): The causal mechanistic relationships between Essure® and adverse effects are unclear, but corrosion in the in-vivo environment with release of...

Background: Single daily dose (SDD) is a good way to improve adherence by simplifying treatment. Efficacy data concerning patients with Wilson disease (WD)...

Background and study aims :

Wilsonʼs disease is an autosomal recessive disorder, that affects copper metabolism, leading to copper accumulation in the liver...

Objectives/introduction: Determining 24-hour Urinary Copper Excretion (UCE) levels is useful for diagnosing Wilson's disease (WD) and for treatment monitoring...