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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications (1019)
- 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) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multimodality imaging for diagnosis of subclinical hereditary transthyretin cardiac amyloidosis. (2023/04/01) ♡
- 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 severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment. (2023/04/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study. (2023/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Imaging modalities in early cardiac transthyretin amyloidosis: who is first? (2023/03/01) ♡
- 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. Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. (2023/03/01) ♡
- Functional and morphometric assessment of small-fibre damage in late-onset hereditary transthyretin amyloidosis with polyneuropathy: the controversial relation between small-fibre-related symptoms and diagnostic test findings. (2023/03/01) ♡
- Impact of baseline polyneuropathy severity on patisiran treatment outcomes in the APOLLO trial. (2023/03/01) ♡
- Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant. (2023/03/01) ♡
- Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain. (2023/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example. (2023/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Serum neurofilament light chain as a reliable biomarker of hereditary transthyretin-related amyloidosis-A Swiss reference center experience. (2023/03/01) ♡
- Monoclonal Gammopathy of Undetermined Significance in Patients With Transthyretin Amyloidosis (ATTR): Analysis Using the iStopMM Criteria. (2023/03/01) ♡
- Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy? (2023/02/01) ♡
- (99m) Technetium-pyrophosphate bone scan: A potential biomarker for the burden of transthyretin amyloidosis in skeletal muscle: A preliminary study. (2023/02/01) ♡
- Functional and structural markers of peripheral microvascular autonomic neuropathy. (2023/02/01) ♡
- Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen. (2023/02/01) ♡
- Pro-inflammatory cytokine secretion induced by amyloid transthyretin in human cardiac fibroblasts. (2023/01/29) ♡
- Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study. (2023/01/01) ♡
- Treatment of acquired transthyretin amyloidosis in domino liver transplantation. (2023/01/01) ♡
- 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. Treating hereditary transthyretin amyloidosis: Present & future challenges. (2023/01/01) ♡
- Neuropathology of central nervous system involvement in TTR amyloidosis. (2023/01/01) ♡
- OPHTHALMOLOGIC INVOLVEMENT IN PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS. (2023/01/01) ♡
- Peripheral nerve involvement in wild-type transthyretin amyloidosis. (2023/01/01) ♡
- Microhook ab interno trabeculotomy for secondary glaucoma in patients with hereditary transthyretin amyloidosis. (2023/01/01) ♡
- Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis. (2023/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report. (2023/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Does Patisiran Reduce Ocular Transthyretin Synthesis? A Pilot Study of Two Cases. (2023/01/01) ♡
- Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis. (2023/01/01) ♡
- Diagnosis and treatment of transthyretin amyloidosis cardiomyopathy: A position statement of the Polish Cardiac Society. (2023/01/01) ♡
- Patisiran Enhances Muscle Mass after Nine Months of Treatment in ATTRv Amyloidosis: A Study with Bioelectrical Impedance Analysis and Handgrip Strength. (2022/12/27) ♡
- 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 with Polyneuropathy: Monitoring and Management. (2022/12/20) ♡
- A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study. (2022/12/17) ♡
- Serum Inflammatory Profile in Hereditary Transthyretin Amyloidosis: Mechanisms and Possible Therapeutic Implications. (2022/12/12) ♡
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