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About 1,235 results

ALLMedicine™ Wilson Disease Center

Research & Reviews  449 results

Variants of uncertain significance in the era of next-generation sequencing.
https://doi.org/10.1097/JXX.0000000000000745
Journal of the American Association of Nurse Practitioners; Levkova M, Stoyanova M et. al.

Jun 23rd, 2022 - Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical ge...

Copper
https://emedicine.medscape.com/article/2087780-overview

Jun 21st, 2022 - Reference Range Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum...

Copper
http://emedicine.medscape.com/article/2087780-overview

Jun 21st, 2022 - Reference Range Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum...

Copper
https://emedicine.medscape.com/article/2087780-print

Jun 21st, 2022 - Copper levels can be evaluated to help diagnose several disease processes. These conditions may be monitored by looking at the total copper, the free serum copper, 24-hour urine copper, and liver biopsy copper concentrations. Serum ceruloplasmin i...

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Clinicaltrials.gov  14 results

Clinical Study of UX701 AAV-Mediated Gene Transfer for the Treatment of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04884815

May 31st, 2022 - This study is a randomized, double-blind, placebo-controlled, seamless, adaptive Phase 1/2/3 clinical study of UX701 in patients with Wilson disease. Stage 1 (Phase 1/2) is designed to evaluate the safety and efficacy of 3 dose levels of UX701 to ...

Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04909346

May 25th, 2022 - The study is primarily designed to follow a virtual model, in which Screening will take place over a telephone/video call. The study will comprise a single home health visit, either on the same day as Screening or within 30 days of enrollment. A s...

rTMS in Wilmson Diasease Dysarthria
https://clinicaltrials.gov/ct2/show/NCT04910581

Apr 12th, 2022 - A consecutive series of Wilson disease patients with dystonic hyperkinetic dysarthria will be prospectively recruited. Patients will receive 3 days apart to two rTMS sessions. rTMS procedures will be performed with a figure of eight coiled. A sing...

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04965545

Jul 16th, 2021 - Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifesta...

Natural History of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT03334292

Jul 16th, 2021 - There are three aims outlined as part of this research study. Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the Uni...

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News  25 results

Pediatric NAFLD almost always stems from excess body weight, not other etiologies
https://www.mdedge.com/pediatrics/article/238291/obesity/pediatric-nafld-almost-always-stems-excess-body-weight-not-other
Will Pass

Apr 7th, 2021 - Nonalcoholic fatty liver disease (NAFLD) in children is almost always caused by excess body weight, not other etiologies, based on a retrospective analysis of 900 patients. Just 2% of children with overweight or obesity and suspected NAFLD had oth.

September 2020 - Quick Quiz Question 1
https://www.mdedge.com/gihepnews/article/230577/mixed-topics/september-2020-quick-quiz-question-1

Oct 23rd, 2020 - Q1: Correct answer: B Rationale A serum ceruloplasmin less than 5 mg/L and a 24-hour urine copper excretion greater than 100 mcg/24 hours are both highly suggestive of Wilson's disease, a disorder of copper metabolism caused by a mutation in a P-t.

Wilson Disease: Osmosis Study Video
https://www.medscape.com/viewarticle/932327

Jun 19th, 2020 - Wilson disease is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is the result of inadequate copper excretion into bile and blood, result...

5-year-old boy • behavioral issues • elevated ALT and AST levels • Dx?
https://www.mdedge.com/familymedicine/article/218309/gastroenterology
MDedge Family Medicine; Jeffrey Taylor, MD, MS, Thomas Flass, MD, MS

Mar 3rd, 2020 - THE CASE A 5-year-old boy was brought into his primary care clinic by his mother, who expressed concern about her son’s increasing impulsiveness, aggression, and difficulty staying on task at preschool and at home. The child’s medical history was.

High-calorie diet may worsen Wilson disease
https://www.mdedge.com/gihepnews/article/195884/liver-disease/high-calorie-diet-may-worsen-wilson-disease/page/0/1?channel=69

Mar 7th, 2019 - Copper testing showed that Wilson disease rats fed the high-calorie diet had high serum levels of non–ceruloplasmin-bound copper, which is a sign of overt liver damage; based on histologic findings, the copper likely came from destroyed hepatocyte.

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Patient Education  6 results see all →