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Rare and hereditary disorders
Wilson's disease
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Publications and studies (2037)
- Association of Dietary Micronutrient Intake and the Metabolome in Children with CKD. (2025/11/01) ♡
- 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. Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature. (2025/11/01) ♡
- Hyperammonemia. (2025/10/24) ♡
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing. (2025/10/24) ♡
- Maternal and Fetal Outcomes of Pregnancies in Wilson's Disease: A Single-Centre Real-Life Experience. (2025/10/22) ♡
- Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration. (2025/10/21) ♡
- Burden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023. (2025/10/18) ♡
- Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023. (2025/10/18) ♡
- Haematological Predictors of Cirrhosis in Paediatric Wilson Disease: A Record-Based Analysis. (2025/10/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A pragmatic, randomised, open-label, multi-centre UK registry-facilitated trial evaluating the effect of high-dose cholecalciferol on mortality in patients on dialysis: the SIMPLIFIED trial. (2025/10/15) ♡
- Female Sex is Protective Against MASLD With Clinically Significant Fibrosis in a Large Cross-sectional Cohort of Persons With HIV. (2025/10/14) ♡
- 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. Copper homeostasis and cuproptosis: implications for neurodegenerative diseases. (2025/10/13) ♡
- Dietary exposures and risk of anxiety and depression symptoms in the Lothian Birth Cohort 1936: a cohort-level GLAD Project analysis. (2025/10/08) ♡
- Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals. (2025/10/07) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Native liver survival with therapeutic plasma exchange in acutely decompensated hepatic Wilson Disease: revisiting the Dhawan index. (2025/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Directly Measuring Atherogenic Lipoprotein Kinetics in Zebrafish With the Photoconvertible LipoTimer Reporter. (2025/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of fistulating disease involving the terminal ileum and sigmoid colon-A video vignette. (2025/10/01) ♡
- Necrotizing Soft Tissue Infections. (2025/10/01) ♡
- 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. The Postmenopausal Women. (2025/09/30) ♡
- 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. Thyroid Hormones in Brain Development and Function. (2025/09/29) ♡
- 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. Primary Disorders of Phosphate Metabolism. (2025/09/25) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Amyloid-β-driven Alzheimer's disease reshapes the colonic immune system in mice. (2025/09/23) ♡
- 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. Islet Transplantation. (2025/09/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Toxocara-induced eosinophilic myocarditis. (2025/09/15) ♡
- 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 association study provides novel insight into the genetic architecture of severe obesity. (2025/09/12) ♡
- Diet quality and nutritional risk in patients with Wilson's disease: a cross-sectional study. (2025/09/11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Association Between Diet and Emotional Symptoms in Early Childhood: Cross-Sectional Results from the Piccolipiù Cohort. (2025/09/09) ♡
- Graphic-style stories to engage limited resource communities and promote health: methods for iterative co-design with community representatives. (2025/09/08) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Spot urinary copper/creatinine ratio: a non-invasive tool for diagnosis of Wilson's disease in children. (2025/09/04) ♡
- 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. Medication Induced Changes in Lipids and Lipoproteins. (2025/09/02) ♡
- A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. (2025/09/01) ♡
- Metabolic Dysfunction-Associated Steatotic Liver Disease in Patients and Mice with Wilson Disease. (2025/09/01) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Management of paediatric ulcerative colitis, part 2: Acute severe colitis-An updated evidence-based consensus guideline from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition and the European Crohn's and Colitis Organization. (2025/09/01) ♡
- NASPGHAN position statement: Enabling quality pediatric gastroenterology care through electronic health record data capture and visualization. (2025/09/01) ♡
- Management of pediatric inflammatory bowel diseases in limited-resource settings: A position paper from the Paediatric IBD Porto Group of ESPGHAN. (2025/09/01) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Management of paediatric ulcerative colitis, part 1: Ambulatory care-An updated evidence-based consensus guideline from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition and the European Crohn's and Colitis Organisation. (2025/09/01) ♡
- Polygenic prediction of body mass index and obesity through the life course and across ancestries. (2025/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Positive Predictive Value of Tissue Transglutaminase IgA for Celiac Disease. (2025/09/01) ♡
- Guidance for Prenatal, Postnatal and Neonatal Immunohematology Testing in Canada: Consensus Recommendations from a Modified Delphi Process. (2025/09/01) ♡
- Adipocyte-specific ET(B) receptor overexpression induces obesity, insulin resistance, and dyslipidemia in high-fat diet-fed female mice. (2025/09/01) ♡
- Perioperative Outcomes of 43 Robotic Tracheobronchoplasties for Excessive Dynamic Airway Collapse. (2025/08/29) ♡
- 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. Pituitary and Adrenal Disorders of Pregnancy. (2025/08/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS. (2025/08/22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Poor sleep and hepatic steatosis contribute to poorer quality of life in people with human immunodeficiency virus. (2025/08/07) ♡
- 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. Pediatric Neurosonography: Comprehensive Review and Systematic Approach. (2025/08/01) ♡
- Wheat-Based Protein Slows Disease Progression in Pkd1 Knockout Mice. (2025/08/01) ♡
- Gestational vitamin D concentration and child cognitive development: a longitudinal cohort study in the Environmental influences on Child Health Outcomes Program. (2025/08/01) ♡
- 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. Diabetes Mellitus After Solid Organ Transplantation. (2025/07/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. [Gandou Fumu Decoction improves liver steatosis by inhibiting hepatocyte ferroptosis in mice with Wilson's disease through the GPX4/ACSL4/ALOX15 signaling pathway]. (2025/07/20) ♡
- Aconitate Decarboxylase 1 Downregulates Colitis and Maintains Homeostasis of the Gut Metabolome and Microbiome. (2025/07/18) ♡
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