Results 21 to 30 of about 2,712 (224)

Maternal and Fetal Outcomes of Pregnancies in Wilson's Disease: A Single-Centre Real-Life Experience. [PDF]

Turk J Gastroenterol
Background/Aims: This study aims to investigate the fetal outcomes and pregnancy course in patients with Wilson’s disease (WD). Materials and Methods: A total of 54 female patients with a diagnosis of WD and a history of pregnancy between 1985 and ...
Demir K, Çifcibaşı Örmeci A, Çavuş B, İstemihan Z, Genç S, Atasoy A, Akyüz F, Beşışık F, Kaymakoğlu S.   +8 more
europepmc   +2 more sources

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective. [PDF]

GE Port J Gastroenterol
Wilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs.
Calinas F, Cardoso H, Carvalhana S, Ferreira J, Gonçalves C, Magalhães M, Miranda HP, Presa J, Rolanda C, Santos A, Santos RM.   +10 more
europepmc   +2 more sources

The Economic Burden, Epidemiological Insights, and Treatment Patterns of Wilson's Disease: A Real-World Study in Italy. [PDF]

Drugs Real World Outcomes
Background Wilson's disease (WD) is an autosomal recessive disorder characterized by abnormal copper accumulation, leading to multi-organ damage. The economic impact of WD in Italy has not been comprehensively studied.
Sciattella P, Scortichini M, Cazzagon N, Loudianos G, Zuin M, Battezzati PM, Maggiore G, Grieco A, Baglione E, Senzolo M, Mazza S, Della Corte C, Tortora A, Di Dato F, Matarazzo M, Iorio R.   +15 more
europepmc   +2 more sources

Management of Wilson disease across Europe: an international physician-oriented survey by the ERN-RARE Liver group. [PDF]

Orphanet J Rare Dis
Background Wilson disease (WD) is a rare disorder resulting in copper overload. Diagnosis and treatment are complex and highly specialized. We aimed to investigate the management of WD across Europe in line with the mission and framework of the European ...
Kirk FT, Rewitz KS, Mariño Z, Couchonnal E, Lanthier N, Papenthin W, Berenguer M, Poujois A, Debray D, Ala A, García-Villarreal L, Pop TL, Denk G, Socha P, Sandahl TD.   +14 more
europepmc   +2 more sources

A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment? [PDF]

Orphanet J Rare Dis
Background & Aim Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients.
Mohr I, Lamade P, Weber C, Leidner V, Köhrer S, Olkus A, Lang M, Langel A, Dankert P, Greibich M, Wolf S, Zimmer H, Michl P, Poujois A, Weiss KH, Merle U.   +15 more
europepmc   +2 more sources

Removal of Toxic Metabolites-Chelation: Manganese Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Vogt H, Kostakis GE, Purchase R, Spencer J, Tuschl K.   +4 more
europepmc   +2 more sources

Benefits and drawbacks of current copper chelators in Wilson disease [PDF]

Romanian Journal of Neurology, 2023
Background. Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, caused by mutations in the ATP7B gene, which codes for a membrane-bound copper-binding ATPase.
Ioan-Cristian Lupescu, Maria Speranta Iacob, Razvan Iacob, Daniela Anghel, Octavia Adriana Dulamea, Crisanda Vilciu, Liliana Gheorghe   +6 more
doaj   +1 more source

Wilson's Disease in Oman: A National Cohort Study of Clinical Spectrum, Diagnostic Delay, and Long-Term Outcomes. [PDF]

Clin Pract
Background/Objectives: Wilson’s disease (WD) is a rare autosomal recessive disorder of copper metabolism that results in hepatic, neurological, and psychiatric manifestations.
Al-Busafi SA, Al Julandani JN, Alismaeili Z, Al Raisi JJ.   +3 more
europepmc   +2 more sources

Copper and zinc concentrations in the breast milk of mothers undergoing treatment for Wilson’s disease: a prospective study

BMJ Paediatrics Open, 2021
Objective To evaluate the concentrations of copper and zinc in the breast milk of mothers undergoing treatment for Wilson’s disease (WD) and clarify whether they can safely breast feed their infants.Design This was an observational and prospective study ...
Yasuhiro Sato, Hiroko Kodama, Yasumi Anan, Yoichi Izumi, Yasumitsu Ogra   +4 more
doaj   +1 more source

Postoperative Outcomes Following Liver Transplantation for Wilson's Disease: A Systematic Review and Meta-Analysis. [PDF]

Clin Transplant
ABSTRACT Background Liver transplant is indicated in patients with Wilson's disease for acute hepatic failure, advanced cirrhosis, and disease refractory to chelation therapy. This study aims to systematically review data about overall morbidity, hepatic, neuropsychiatric, and survival outcomes following liver transplantation for Wilson disease ...
Wang A, Bakir N, Ngo C, Kang J, Rodriguez F, McKechnie T, Eskicioglu C, Segedi M, Serrano PE.   +8 more
europepmc   +2 more sources