Results 1 to 10 of about 24,019 (162)
La maladie de Wilson: A propos d'un cas familial [PDF]
The Pan African Medical Journal, 2014 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 +3 more sources
L'anneau de Kayser-Fleischer dans la maladie de Wilson [PDF]
The Pan African Medical Journal, 2018 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 +4 more sources
La maladie de Wilson chez l'enfant: à propos de 20 cas [PDF]
The Pan African Medical Journal, 2013 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 +4 more sources
Evaluation of vitamin B6 supplementation in Wilson’s disease patients treated with D-penicillamine [PDF]
BMJ Open Gastroenterology, 2023 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
Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests [PDF]
Diagnostics, 2023 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
Tuberculose hépatique nodulaire: complication inhabituelle au cours de la maladie de Wilson [PDF]
The Pan African Medical Journal, 2014 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
Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets [PDF]
JHEP ReportsBackground & 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
ROLUL PROTEINEI ATP7B ÎN HOMEOSTAZIA CUPRULUI ȘI ÎN DEZVOLTAREA BOLII WILSON: REVISTA LITERATURII
Arta Medica, 2022 Obiective. Scopul lucrării prezente constă în studierea funcției proteinei ATP7B la nivel celular și sistemic, implicarea enzimei în menținerea echilibrului intern al ionilor de cupru, precum și rolul ei în dezvoltarea maladiei Wilson.
Veronica Cumpătă
doaj +1 more source
Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
core +1 more source