Amyloid-Journal of Protein Folding Disorders最新文献

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Prognostic value of CMR-derived extracellular volume in AL amyloidosis: a multicenter study. AL淀粉样变性中CMR衍生细胞外体积的预后价值:一项多中心研究。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-25 DOI: 10.1080/13506129.2024.2406842
Martin Nicol, Cassiel Kitzinger, Mathilde Baudet, Alyssa Faradji, Théo Pezel, David Lavergne, Arnaud Jaccard, Giuseppe Vergaro, Alberto Aimo, Michele Emdin, Stephanie Harel, Bruno Royer, Alexis Talbot, Valérie Bousson, Laurent Macron, Bertrand Arnulf, Damien Logeart
{"title":"Prognostic value of CMR-derived extracellular volume in AL amyloidosis: a multicenter study.","authors":"Martin Nicol, Cassiel Kitzinger, Mathilde Baudet, Alyssa Faradji, Théo Pezel, David Lavergne, Arnaud Jaccard, Giuseppe Vergaro, Alberto Aimo, Michele Emdin, Stephanie Harel, Bruno Royer, Alexis Talbot, Valérie Bousson, Laurent Macron, Bertrand Arnulf, Damien Logeart","doi":"10.1080/13506129.2024.2406842","DOIUrl":"https://doi.org/10.1080/13506129.2024.2406842","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the prognostic value of cardiac magnetic resonance (CMR) variables and compare them with biological and echocardiographic markers in patients with AL cardiac amyloidosis (CA).</p><p><strong>Methods: </strong>We conducted a prospective study across three tertiary centres, where patients underwent clinical examination, blood tests, echocardiography, and CMR. The primary endpoint was all-cause mortality.</p><p><strong>Results: </strong>A total of 176 patients with AL CA were included, with a median age of 68 years (IQR 58-75). According to the 2004 Mayo Clinic staging, 121 patients (69%) were in stage 3. During a median follow-up of 22 months (IQR 8-48), 45 patients died, and 55 were hospitalized for heart failure. Patients who died had higher NT-proBNP and troponin levels, and lower LVEF, cardiac output, and longitudinal strain. Among CMR variables, extracellular volume (ECV) was most strongly associated with all-cause mortality. In multivariate Cox models, including Mayo Clinic staging, ECV ≥ 0.45 was independently associated with mortality (HR 2.36, CI 95% 1.47-5.60) and also with heart failure hospitalizations (HR 4.10, 95%CI 2.15-8.8).</p><p><strong>Conclusion: </strong>ECV is a powerful predictor of outcomes in AL CA, providing additional prognostic value on top of Mayo Clinic staging.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Refining prognostication in systemic AL amyloidosis: limited value of dFLC. 完善系统性 AL 淀粉样变性的预后:dFLC 的价值有限。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-23 DOI: 10.1080/13506129.2024.2406845
Jahanzaib Khwaja, Sriram Ravichandran, Joshua Bomsztyk, Oliver Cohen, Darren Foard, Ana Martinez-Naharro, Lucia Venneri, Marianna Fontana, Carol Whelan, Philip N Hawkins, Julian D Gillmore, Helen J Lachmann, Shameem Mahmood, Ashutosh Wechalekar
{"title":"Refining prognostication in systemic AL amyloidosis: limited value of dFLC.","authors":"Jahanzaib Khwaja, Sriram Ravichandran, Joshua Bomsztyk, Oliver Cohen, Darren Foard, Ana Martinez-Naharro, Lucia Venneri, Marianna Fontana, Carol Whelan, Philip N Hawkins, Julian D Gillmore, Helen J Lachmann, Shameem Mahmood, Ashutosh Wechalekar","doi":"10.1080/13506129.2024.2406845","DOIUrl":"https://doi.org/10.1080/13506129.2024.2406845","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
International prevalence of transthyretin amyloid cardiomyopathy in high-risk patients with heart failure and preserved or mildly reduced ejection fraction. 在心力衰竭、射血分数保留或轻度降低的高危患者中,转甲状腺素淀粉样变性心肌病的国际流行率。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-08 DOI: 10.1080/13506129.2024.2398446
Sergi Yun, Giovanni Palladini, Lisa J Anderson, Eve Cariou, Ronnie Wang, Franca S Angeli, Ben Ebede, Pablo Garcia-Pavia
{"title":"International prevalence of transthyretin amyloid cardiomyopathy in high-risk patients with heart failure and preserved or mildly reduced ejection fraction.","authors":"Sergi Yun, Giovanni Palladini, Lisa J Anderson, Eve Cariou, Ronnie Wang, Franca S Angeli, Ben Ebede, Pablo Garcia-Pavia","doi":"10.1080/13506129.2024.2398446","DOIUrl":"https://doi.org/10.1080/13506129.2024.2398446","url":null,"abstract":"<p><strong>Background: </strong>Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF).</p><p><strong>Methods: </strong>This epidemiology study assessed the international prevalence of ATTR-CM among patients aged ≥60 years with a history of HF, left ventricular ejection fraction (LVEF) >40%, an end-diastolic interventricular septum thickness (IVST) ≥12 mm, but without diagnosed amyloidosis, history of LVEF ≤40%, cardiomyopathy of known cause, severe valvular, or coronary heart disease. ATTR-CM was determined using cardiac scintigraphy alongside exclusionary testing for light chain amyloidosis. The study was terminated early due to slow recruitment, without safety concerns.</p><p><strong>Results: </strong>Overall, 56/315 (18%; 95% CI: 13.7-22.5) patients with evaluable scintigraphy had ATTR-CM, with a numerically higher prevalence in: Europe (24%) <i>vs.</i> other regions (9% Asia; 5% North America); at specialist vs non-specialist centres (26% <i>vs.</i> 11%); in males <i>vs.</i> females (24% <i>vs.</i> 10%); and in older <i>vs</i>. younger patients (e.g. >40% among those ≥85 years). Other risk markers (<i>p</i><.05) included a history of carpal tunnel syndrome, higher N-terminal pro B-type natriuretic peptide concentration, and higher end-diastolic IVST.</p><p><strong>Conclusions: </strong>ATTR-CM was diagnosed in 18% (95% CI: 13.7-22.5) of evaluable patients with HF, LVEF >40%, and risk markers for ATTR-CM, but no previous diagnosis of amyloidosis. Recruitment bias may have contributed to regional variability. NCT04424914.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
No body fits in the test tube - the case of transthyretin. 试管中没有合适的人体--转甲状腺素的案例。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-08 DOI: 10.1080/13506129.2024.2401154
Seweryn Ulaszek, Barbara Wiśniowska, Bartek Lisowski
{"title":"No body fits in the test tube - the case of transthyretin.","authors":"Seweryn Ulaszek, Barbara Wiśniowska, Bartek Lisowski","doi":"10.1080/13506129.2024.2401154","DOIUrl":"https://doi.org/10.1080/13506129.2024.2401154","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy. 一大批遗传性经淀粉样蛋白淀粉样变性伴多发性神经病患者的 T2-松弛度测定。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-02 DOI: 10.1080/13506129.2024.2398453
Anysia Poncelet, Ute Hegenbart, Stefan O Schönland, Georges Sam, Jan C Purrucker, Ernst Hund, Fabian Aus dem Siepen, Kira Göldner, John M Hayes, Sabine Heiland, Martin Bendszus, Markus Weiler, Jennifer C Hayes
{"title":"T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy.","authors":"Anysia Poncelet, Ute Hegenbart, Stefan O Schönland, Georges Sam, Jan C Purrucker, Ernst Hund, Fabian Aus dem Siepen, Kira Göldner, John M Hayes, Sabine Heiland, Martin Bendszus, Markus Weiler, Jennifer C Hayes","doi":"10.1080/13506129.2024.2398453","DOIUrl":"https://doi.org/10.1080/13506129.2024.2398453","url":null,"abstract":"<p><strong>Background: </strong>Previously, T2-relaxation time (T2<sub>app</sub>) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).</p><p><strong>Methods: </strong>Eighty participants with pathologic variants of the <i>transthyretin</i> gene (<i>TTRv</i>) and 40 controls prospectively underwent magnetic resonance neurography. T2-relaxometry was performed, allowing to calculate tibial ρ, T2<sub>app</sub> and cross-sectional-area (CSA). Detailed clinical examinations and NCS of tibial and peroneal nerves were performed.</p><p><strong>Results: </strong>Forty participants were classified as asymptomatic <i>TTRv</i>-carriers, 40 as symptomatic patients with polyneuropathy. ρ, T2<sub>app</sub> and CSA were significantly higher in symptomatic ATTRv amyloidosis (484.2 ± 14.8 a.u.; 70.6 ± 1.8 ms; 25.7 ± 0.9 mm<sup>2</sup>) versus <i>TTRv-</i>carriers (413.1 ± 9.4 a.u., <i>p</i> < 0.0001; 62.3 ± 1.3 ms, <i>p</i> = 0.0002; 19.0 ± 0.8 mm<sup>2</sup>, <i>p</i> < 0.0001) and versus controls (362.6 ± 7.5 a.u., <i>p</i> < 0.0001; 59.5 ± 1.0 ms, <i>p</i> < 0.0001; 15.4 ± 0.5 mm<sup>2</sup>, <i>p</i> < 0.0001). Only ρ and CSA differentiated <i>TTRv-</i>carriers from controls. ρ and CSA correlated with NCS in <i>TTRv</i>-carriers, while T2<sub>app</sub> correlated with NCS in symptomatic ATTRv amyloidosis. Both ρ and T2<sub>app</sub> correlated with clinical score.</p><p><strong>Conclusion: </strong>ρ and CSA can detect early nerve injury and correlate with electrophysiology in asymptomatic <i>TTRv</i>-carriers. T2<sub>app</sub> increases only in symptomatic ATTRv amyloidosis in whom it correlates with clinical scores and electrophysiology. Our results suggest that T2-relaxometry can provide biomarkers for disease- and therapy-monitoring in the future.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient-reported satisfaction with telemedicine in light chain (AL) amyloidosis care. 患者对远程医疗在轻链(AL)淀粉样变性病护理方面的满意度报告。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-05-20 DOI: 10.1080/13506129.2024.2344160
Idayat Akinola, Kathryn E Flynn, Aniko Szabo, Muriel Finkel, Anita D'Souza
{"title":"Patient-reported satisfaction with telemedicine in light chain (AL) amyloidosis care.","authors":"Idayat Akinola, Kathryn E Flynn, Aniko Szabo, Muriel Finkel, Anita D'Souza","doi":"10.1080/13506129.2024.2344160","DOIUrl":"10.1080/13506129.2024.2344160","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis. 转甲状腺素单体:症状前转甲状腺素相关淀粉样变性的新血浆生物标记物。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-07-01 DOI: 10.1080/13506129.2024.2368860
Diogo Costa-Rodrigues, José P Leite, Maria João Saraiva, Maria Rosário Almeida, Luís Gales
{"title":"Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis.","authors":"Diogo Costa-Rodrigues, José P Leite, Maria João Saraiva, Maria Rosário Almeida, Luís Gales","doi":"10.1080/13506129.2024.2368860","DOIUrl":"10.1080/13506129.2024.2368860","url":null,"abstract":"<p><strong>Background: </strong>Genotyping and amyloid fibril detection in tissues are generally considered the diagnostic gold standard in transthyretin-related amyloidosis. Patients carry less stable TTR homotetramers prone to dissociation into non-native monomers, which rapidly self-assemble into oligomers and, ultimately, amyloid fibrils. Thus, the initial event of the amyloid cascade produces the smallest transthyretin species: the monomers. This creates engineering opportunities for diagnosis that remain unexplored.</p><p><strong>Methods: </strong>We hypothesise that molecular sieving represents a promising method for isolating and concentrating trace TTR monomers from the tetramers present in plasma samples. Subsequently, immunodetection can be utilised to distinguish monomeric TTR from other low molecular weight proteins within the adsorbed fraction. A two-step assay was devised (ImmunoSieve assay), combining molecular sieving and immunodetection for sensing monomeric transthyretin. This assay was employed to analyse plasma microsamples from 10 individuals, including 5 pre-symptomatic carriers of TTR-V30M, the most prevalent amyloidosis-associated TTR variant worldwide, and 5 healthy controls.</p><p><strong>Results: </strong>The ImmunoSieve assay enable sensitive detection of monomeric transthyretin in plasma microsamples. Moreover, the circulating monomeric TTR levels were significantly higher in carriers of amyloidogenic TTR mutation.</p><p><strong>Conclusions: </strong>Monomeric TTR can function as a biomarker for evaluating disease progression and assessing responses to therapies targeted at stabilising native TTR.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Response to therapy with tafamidis 61 mg in patients with cardiac transthyretin amyloidosis: real-world experience since approval. 心脏转甲状腺素淀粉样变性患者对他法米迪 61 毫克治疗的反应:获批后的实际体验。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-07-17 DOI: 10.1080/13506129.2024.2376202
Fabian Aus dem Siepen, Christopher Meissner, Eva Hofmann, Selina Hein, Christian Nagel, Ute Hegenbart, Stefan O Schönland, Florian Andre, Norbert Frey, Arnt V Kristen
{"title":"Response to therapy with tafamidis 61 mg in patients with cardiac transthyretin amyloidosis: real-world experience since approval.","authors":"Fabian Aus dem Siepen, Christopher Meissner, Eva Hofmann, Selina Hein, Christian Nagel, Ute Hegenbart, Stefan O Schönland, Florian Andre, Norbert Frey, Arnt V Kristen","doi":"10.1080/13506129.2024.2376202","DOIUrl":"10.1080/13506129.2024.2376202","url":null,"abstract":"<p><strong>Aims: </strong>Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive disease that causes heart failure due to amyloid fibril deposition. Tafamidis was approved as the first causal treatment in 2020. We here report on real-world data in patients treated with tafamidis for at least 12 months according to the recently defined European Society for Cardiology (ESC) consensus criteria for disease progression.</p><p><strong>Methods and results: </strong>Three hundred and eight wildtype and 31 hereditary ATTR-CM patients were prospectively enrolled after first diagnosis of ATTR-CM and initiation of tafamidis 61 mg once daily treatment. After 12 months, significant deterioration in Karnofsky Index, estimated glomerular filtration rate (eGFR), N-terminal brain natriuretic peptide (NT-proBNP), septum thickness and left ventricular ejection fraction (LVEF) could be observed, significant disease progression was only detected in 25 patients (9%) using ESC consensus criteria. Mean survival time was 37 months with no differences between responders and non-responders. NT-proBNP was the only independent predictor for poor therapy response (<i>p</i> = .008).</p><p><strong>Conclusions: </strong>The majority of patients showed no significant disease progression according to the ESC consensus criteria after 12 months of therapy with tafamidis. However, at 12 months, treatment response based on the ESC consensus criteria was not associated with improved survival. Moreover, higher levels of NT-proBNP at diagnosis of ATTR-CM appears to predict poorer treatment response, confirming that timely initiation of therapy is advantageous.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141635594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successes in translation. 成功的翻译。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-08-05 DOI: 10.1080/13506129.2024.2387163
Per Westermark, Giampaolo Merlini
{"title":"Successes in translation.","authors":"Per Westermark, Giampaolo Merlini","doi":"10.1080/13506129.2024.2387163","DOIUrl":"10.1080/13506129.2024.2387163","url":null,"abstract":"<p><p>Translational research is key in advancing the diagnosis and therapy of systemic amyloidoses. This paper summarises our presentations at the ISA Workshop on Translation in Systemic Amyloidoses held in Athens on September 25-26, 2023. The critical advances made by the pioneers in the field are reviewed, with particular attention to the discoveries and developments of utmost importance to our understanding of what amyloid is and how the substance affects functions. Examples of translational research regarding the mechanisms of cardiac damage in light chain amyloidosis, the role of biomarkers in improving our understanding of the biology of the disease and patients' management, and the molecular mechanisms involved in the cytotoxicity are described. Advances in basic research continue to open new therapeutic avenues.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Double pathogenic variant in an ATTRv patient with mixed phenotype. 一名混合表型 ATTRv 患者的双重致病变体。
IF 5.2 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-01 Epub Date: 2024-05-16 DOI: 10.1080/13506129.2024.2346536
Maria Ausilia Sciarrone, Rosa Lillo, Angela Romano, Francesca Vitali, Valeria Guglielmino, Maria Chiara Meucci, Francesca Graziani, Marco Luigetti
{"title":"Double pathogenic variant in an ATTRv patient with mixed phenotype.","authors":"Maria Ausilia Sciarrone, Rosa Lillo, Angela Romano, Francesca Vitali, Valeria Guglielmino, Maria Chiara Meucci, Francesca Graziani, Marco Luigetti","doi":"10.1080/13506129.2024.2346536","DOIUrl":"10.1080/13506129.2024.2346536","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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