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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Wild-type Transthyretin Amyloidosis with Diffuse Alveolar-septal Amyloidosis Diagnosed by a Transbronchial Lung Biopsy. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Regression of left ventricular hypertrophy after tafamidis therapy in a patient with transthyretin amyloidosis variant. (2022/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Feasibility Study of Dendrimer-Based TTR-CRISPR pDNA Polyplex for Ocular Amyloidosis in Vitro. (2022/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Is Hereditary Transthyretin Amyloidosis the Third Leading Cause of Monogenic Chronic Kidney Disease, Only Behind ADPKD and Alport Disease? (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate the Safety and Tolerability, as Well as the Pharmacokinetic and Pharmacodynamic Profiles of Single and Multiple Doses of Eplontersen Administered Subcutaneously to Healthy Volunteers and Patients With Hereditary Transthyretin-Mediated Amyloidosis (hATTR). (2022-12-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ATTR Amyloidosis in Elderly Patients With Aortic Stenosis (2022-12-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Characterize the Biodistribution of 124I-Labeled AT-03 in Patients With Systemic Amyloidosis (2022-09-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients (2022-09-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (2022-07-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of ATTRv Amyloidosis With a V122I or T60A Mutation (2022-06-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP) (2022-06-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A PILOT Study on LSGB vs EMB in the Diagnosis of Cardiac Transthyretin Amyloidosis (2022-05-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of Prognostic Parameters in Patients With "Senile" Amyloid Cardiomyopathy (2022-05-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Analysis of the Intestinal Microbiome of Patients With Transthyretin Amyloidosis (2022-01-19) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Gastrointestinal AL amyloidosis: a rare but severe masquerader. (2021/12/22) ♡
- Lack of Association Between Neurohormonal Blockade and Survival in Transthyretin Cardiac Amyloidosis. (2021/12/21) ♡
- 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. Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer. (2021/12/21) ♡
- 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. CNS Involvement in Hereditary Transthyretin Amyloidosis. (2021/12/14) ♡
- Structural basis for transthyretin amyloid formation in vitreous body of the eye. (2021/12/08) ♡
- Plasmin activity promotes amyloid deposition in a transgenic model of human transthyretin amyloidosis. (2021/12/07) ♡
- 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. A Brief Journey through Protein Misfolding in Transthyretin Amyloidosis (ATTR Amyloidosis). (2021/12/06) ♡
- 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. Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review. (2021/12/01) ♡
- Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis. (2021/12/01) ♡
- An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis. (2021/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Optimizing (99m)Tc-DPD scintigraphy: Adding value to the diagnosis and treatment of cardiac transthyretin amyloidosis. (2021/12/01) ♡
- Early Data on Long-term Impact of Inotersen on Quality-of-Life in Patients with Hereditary Transthyretin Amyloidosis Polyneuropathy: Open-Label Extension of NEURO-TTR. (2021/12/01) ♡
- 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. Yield of bone scintigraphy screening for transthyretin-related cardiac amyloidosis in different conditions: Methodological issues and clinical implications. (2021/12/01) ♡
- 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. Comparison of the United Kingdom and United States approaches to approval of new neuromuscular therapies. (2021/12/01) ♡
- Misconceptions and Facts About Cardiac Amyloidosis. (2021/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. (2021/12/01) ♡
- 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. Advances in the treatment of transthyretin cardiac amyloidosis: Current and emerging therapies. (2021/12/01) ♡
- Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country. (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study. (2021/11/11) ♡
- Artificial Intelligence-Enhanced Electrocardiogram for the Early Detection of Cardiac Amyloidosis. (2021/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial response to Aimo et al Quality-of-life assessment in amyloid transthyretin amyloidosis. (2021/11/01) ♡
- 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. Disease-Modifying Treatments for Transthyretin Amyloidosis. (2021/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence of Transthyretin Amyloid Cardiomyopathy in Heart Failure With Preserved Ejection Fraction. (2021/11/01) ♡
- Pathological review of cardiac amyloidosis using autopsy cases in a single Japanese institution. (2021/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina. (2021/11/01) ♡
- 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. Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case With Transthyretin Amyloid Cardiomyopathy Complicated With Rapidly Progressive Aortic Stenosis Possibly Caused by Amyloid Deposition in the Aortic Valve. (2021/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. (2021/10/28) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. (2021/10/28) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. Reply. (2021/10/28) ♡
- 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. Clinical progress of nanomedicine-based RNA therapies. (2021/10/22) ♡
- Management of transthyretin amyloidosis. (2021/10/20) ♡
- Amyloid Deposits and Fibrosis on Left Ventricular Endomyocardial Biopsy Correlate With Extracellular Volume in Cardiac Amyloidosis. (2021/10/19) ♡
- 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. Phenotypic Spectrum of Transthyretin Cardiac Amyloidosis in a Family: Impact of Mutation Zygosity and Sex. (2021/10/19) ♡
- Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records. (2021/10/19) ♡
- Management Strategies for Atrial Fibrillation and Flutter in Patients with Transthyretin Cardiac Amyloidosis. (2021/10/15) ♡
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