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Rare and hereditary disorders
Wilson's disease
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Publications and studies (2036)
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Behavior change intervention targeting physical activity and diet improves stress and sleep. (2026/03/02) ♡
- Genetic and non-genetic drivers of histological progression and regression in MASLD. (2026/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Vibration-controlled transient elastography in pediatric metabolic dysfunction-associated steatotic liver disease. (2026/03/01) ♡
- Insights from a Ventilation-Aware Pandemic and Outbreak Risk model (VAPOR). (2026/03/01) ♡
- SbHMA5 is a P1B-type Cu ATPase involved in Cu homeostasis by interacting with metallochaperones SbATX1 and SbFRN3. (2026/03/01) ♡
- Practice patterns of transoral incisionless fundoplication: results of the TIF-US survey. (2026/03/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper. (2026/03/01) ♡
- Diagnostic utility of clinical neurophysiology in Wilson's disease with hyperkinetic movements. (2026/03/01) ♡
- Magnolia officinalis Rehder & E. Wilson extract and its main component honokiol alleviate asthma by reducing respiratory inflammation through the TRPV1/NFAT/TSLP pathway. (2026/03/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Choline and DNA methylation: impact across metabolic, oncogenic and neurodevelopmental disorders. (2026/02/27) ♡
- Iron Deficiency and Microcytic Hypochromic Anemia. (2026/02/21) ♡
- Pathobiont-triggered induction of goblet cell response drives regional susceptibility to inflammatory bowel disease. (2026/02/17) ♡
- Barriers to the Adoption of Healthy Lifestyle Behaviors in Patients With Cancer: Results of a National Survey. (2026/02/17) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Hyperaldosteronism. (2026/02/16) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lipid Screening in Youth. (2026/02/16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. (2026/02/14) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Parathyroid Function in the Elderly and Its Disorders. (2026/02/13) ♡
- Gait deviations in adolescent patients with Wilson disease and their possible connections with biochemical markers: preliminary results. (2026/02/12) ♡
- Differentiating mpox infection and vaccination using a validated multiplex orthopoxvirus IgG serology assay. (2026/02/11) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lipoprotein Apheresis. (2026/02/06) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Epigenome-wide association study of circulating interleukin-6 connects DNA methylation to immunometabolic and inflammatory health. (2026/02/04) ♡
- Toward an Emerging Public Health Paradigm: Agriculture and Food Production for Health. (2026/02/03) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Effects of ordered eating on blood glucose, substrate utilization, and perceptual responses with a steady-state exercise bout. (2026/02/01) ♡
- Repurposing melatonin's therapeutic potential in Wilson disease: Addressing copper overload and redox imbalance. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries. (2026/02/01) ♡
- Establishment of the Kenyan Psoriasis Registry: A Case-Control Cohort. (2026/02/01) ♡
- Comprehensive urinary proteomics using DIA and PRM for low-abundance protein profiling of Wilson disease. (2026/02/01) ♡
- cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions. (2026/02/01) ♡
- Evaluation of retinal microvascular changes and laboratory characteristics in children with Wilson disease: an optical coherence tomography angiography study. (2026/02/01) ♡
- Low-input proteomics identifies vWF as a negative regulator of Tet2 mutant hematopoietic stem cell expansion. (2026/01/27) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. (2026/01/27) ♡
- Prevalence and lifestyle risk factors for intervertebral disk disease in English cocker spaniels. (2026/01/21) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Pharmacologic reversal of advanced Alzheimer's disease in mice and identification of potential therapeutic nodes in human brain. (2026/01/20) ♡
- Wilson's disease-associated gut dysbiosis: novel insights into microbial functional alterations, virulence changes, and resistance markers. (2026/01/15) ♡
- Traffic-related air pollution significantly aggravates the detrimental effect of infections on the risk of Alzheimer's disease and other dementias, especially in non-carriers of APOE4. (2026/01/12) ♡
- N-Palmitoyl Glutamine Is a Candidate Mediator of Cardiorespiratory Fitness. (2026/01/06) ♡
- Neonatally-derived multipotent Islet-1+ Mesp1+FOXA2+ stem cell clones restore cardiac function in sheep. (2026/01/05) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. DNA methylation of genes involved in lipid metabolism drives adiponectin levels and metabolic disease. (2026/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Iron deficiency and anaemia in people with inflammatory bowel disease: do we have an ongoing issue of care quality? Crohns Colitis Cure data insights programme. (2026/01/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participants. (2026/01/01) ♡
- Local Interactions Between Innate Immune Signaling, Microbiota, and Bile Acids Drive the Development of Duodenal Adenomas. (2026/01/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction. (2026/01/01) ♡
- Development of a gastrointestinal-restricted cellulose-based copper sequestrant: potential application in treating Wilson's disease. (2026/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genomic determinants of antibiotic resistance for Helicobacter pylori treatment: a retrospective phenotypic and genotypic observational study. (2026/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. First Indian Case of Wilson's Disease With a Chinese-specific ATP7B Variant: Clinical and Genetic Insights. (2026/01/01) ♡
- Thirty-Year Atherosclerotic Cardiovascular Disease Risk Among US Adults Aged 30 to 59 Years. (2026/01/01) ♡
- Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease. (2026/01/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients. (2026-08-05) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) (2026-08-05) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease (2026-07-02) ♡
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