La maladie de Wilson: A propos d'un cas familial [PDF]
La maladie de Wilson est une maladie rare autosomique récessive due à une diminution de l'élimination du cuivre dans la bile et son accumulation toxique dans les organes en particulier le cerveau, le foie, la cornée et le rein d'où son hétérogénéité ...
Yassine Mouzari +4 more
doaj +2 more sources
L'anneau de Kayser-Fleischer dans la maladie de Wilson [PDF]
La maladie de Wilson est une toxicose cuprique caractérisée par une surcharge en cuivre tissulaire: essentiellement hépatique, cérébrale et péricornéenne .elle résulte de mutations sur l'ATP7B qui incorpore le cuivre à la céruléoplasmine dans le foie et ...
Qariani Hajare, Khmamouche Mehdi
doaj +2 more sources
Evaluation of vitamin B6 supplementation in Wilson’s disease patients treated with D-penicillamine [PDF]
Introduction Wilson’s disease (WD) is a copper metabolism disorder characterised by a progressive accumulation of this metal mainly in the liver and the brain.
Olivier Guillaud +4 more
doaj +2 more sources
La maladie de Wilson chez l'enfant: à propos de 20 cas [PDF]
La maladie de Wilson ou dégénérescence hépato-lenticulaire est une affection génétique autosomique récessive caractérisée par une accumulation toxique de cuivre dans l'organisme, essentiellement dans le foie, le système nerveux central et la cornée.
Mounia Lakhdar Idrissi +9 more
doaj +2 more sources
Tuberculose hépatique nodulaire: complication inhabituelle au cours de la maladie de Wilson [PDF]
La tuberculose hépatique nodulaire est rare. Nous rapportons une forme pseudo-tumorale dont le tableau clinico-biologique et radiologique initial était aspécifique.
Ali Zinebi +8 more
doaj +2 more sources
Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests [PDF]
Wilson disease and alpha1-antitrypsin deficiency are two rare genetic diseases that may impact predominantly the liver and/or the brain, and the liver and/or the lung, respectively.
Olivier Guillaud +3 more
doaj +2 more sources
Evaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease [PDF]
Background & Aims: We examined the use of two newer measures of non-ceruloplasmin-bound copper (NCC) and 24-h urinary copper excretion (UCE) to monitor chelation therapy in clinically stable Wilson disease (WD).
Peter Ott +16 more
doaj +2 more sources
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases [PDF]
Background The COVID-19 pandemic presented unique challenges for patients with inherited metabolic diseases (IMDs), particularly due to the risk of infection-related metabolic decompensation and disruptions to specialized care.
Claire Douillard +24 more
doaj +2 more sources
Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets [PDF]
Background & Aims: Wilson disease (WD) is caused by accumulation of copper primarily in the liver and brain. During maintenance therapy of WD with D-penicillamine, current guidelines recommend on-treatment ranges of urinary copper excretion (UCE) of ...
Peter Ott +16 more
doaj +2 more sources
Trends in Drug Claims for Non-Specific Low Back Pain in Québec, 1997 to 2018. [PDF]
ABSTRACT Objective The aim of this study was to describe temporal trend of drugs claims after an episode of non‐specific low back pain in Québec between 1997 and 2018, by pharmacological class. Methods Data came from the PROspective Québec study on work and health (PROQ), the Régie de l'assurance maladie du Québec (RAMQ) and Québec hospital services ...
Ly A, Sirois C, Dionne CE.
europepmc +2 more sources

