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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis. (2023/11/10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). (2023/11/10) ♡
- Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study. (2023/11/10) ♡
- Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments. (2023/11/09) ♡
- 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 rare pathogenic variant identified in a heart transplant recipient with hereditary transthyretin amyloidosis: a case report. (2023/11/01) ♡
- A simple ATTR-CM score to identify transthyretin amyloid cardiomyopathy burden in HFpEF patients. (2023/11/01) ♡
- Transthyretin amyloid cardiomyopathy among patients hospitalized for heart failure and performance of an adapted wild-type ATTR-CM machine learning model: Findings from GWTG-HF. (2023/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Tafamidis in patients with severe heart failure due to transthyretin amyloidosis cardiomyopathy: Improved long-term survival. (2023/11/01) ♡
- 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. World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM). (2023/10/26) ♡
- 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 of hereditary Y69H (p.Y89H) transthyretin variant leptomeningeal amyloidosis presenting with drop attacks and recurrent transient language disorder. (2023/10/25) ♡
- Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy. (2023/10/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis. (2023/10/16) ♡
- 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. Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal. (2023/10/12) ♡
- 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. Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy. (2023/10/05) ♡
- Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis. (2023/10/02) ♡
- Multimodality imaging of simultaneous occurrence of cardiac transthyretin amyloidosis and cardiac sarcoidosis. (2023/10/01) ♡
- Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy. (2023/10/01) ♡
- Valve disease in cardiac amyloidosis: an echocardiographic score. (2023/10/01) ♡
- Quantification of muscle involvement in familial amyloid polyneuropathy using MRI. (2023/10/01) ♡
- Strain-derived myocardial work in wild-type transthyretin cardiac amyloidosis with aortic stenosis-diagnosis and prognosis. (2023/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France. (2023/10/01) ♡
- 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. Vutrisiran: A Review in Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis. (2023/10/01) ♡
- 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. Current Evidence Supporting the Role of Immune Response in ATTRv Amyloidosis. (2023/09/29) ♡
- Role of Saturation and Length of Fatty Acids of Phosphatidylserine in the Aggregation of Transthyretin. (2023/09/20) ♡
- EGCG-Mediated Protection of Transthyretin Amyloidosis by Stabilizing Transthyretin Tetramers and Disrupting Transthyretin Aggregates. (2023/09/15) ♡
- Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy: a 12-month follow-up cohort study. (2023/09/13) ♡
- Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals. (2023/09/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Black Women and Transthyretin Amyloidosis: Insights From the Women's Health Initiative. (2023/09/01) ♡
- Popeye Sign in Hereditary Transthyretin Amyloidosis. (2023/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The serum level of plasmin-alpha2 plasmin inhibitor complex (PIC) is useful for differentiating cardiac light chain amyloidosis from transthyretin amyloidosis. (2023/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO). (2023/09/01) ♡
- 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. [Neurological manifestations of ATTR amyloidosis]. (2023/09/01) ♡
- Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca. (2023/08/31) ♡
- 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 Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement. (2023/08/29) ♡
- Long-term surgical results of trabeculectomy for secondary glaucoma in Val30Met hereditary transthyretin amyloidosis. (2023/08/07) ♡
- Cardiac DPD-uptake time dependency in ATTR patients verified by quantitative SPECT/CT and semiquantitative planar parameters. (2023/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy. (2023/08/01) ♡
- Isolated transthyretin valvular amyloidosis. (2023/08/01) ♡
- Changes in Exercise Tolerance over Time in Patients with Transthyretin Amyloidosis Cardiomyopathy Treated with Tafamidis. (2023/07/29) ♡
- Clinical model for Hereditary Transthyretin Amyloidosis age of onset prediction. (2023/07/17) ♡
- Benziodarone and 6-hydroxybenziodarone are potent and selective inhibitors of transthyretin amyloidogenesis. (2023/07/15) ♡
- Regression of Myocardial (99m)Tc-DPD Uptake After Tafamidis Treatment of Cardiac Transthyretin Amyloidosis. (2023/07/01) ♡
- Efficacy of Tafamidis in Patients with Ala97Ser Hereditary Transthyretin Cardiac Amyloidosis: A Six-Month Follow-Up Study. (2023/07/01) ♡
- 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. RNAi therapeutics for diseases involving protein aggregation: fazirsiran for alpha-1 antitrypsin deficiency-associated liver disease. (2023/07/01) ♡
- Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. (2023/06/01) ♡
- (99m)Tc-PYP SPECT and SPECT/CT quantitation for diagnosing cardiac transthyretin amyloidosis. (2023/06/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. 1-hour versus 3-hour 99mTc-PYP imaging to evaluate suspected cardiac transthyretin amyloidosis. (2023/05/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Focal Segmental Glomerulosclerosis Complicating Therapy With Inotersen, an Antisense Oligonucleotide Inhibitor: A Case Report. (2023/05/01) ♡
- Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy. (2023/05/01) ♡
- Indirect treatment comparison (ITC) of the efficacy of vutrisiran and tafamidis for hereditary transthyretin-mediated amyloidosis with polyneuropathy. (2023/05/01) ♡
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