标题
Cardiac Involvement in Fabry Disease
作者
关键词
-
出版物
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Volume 77, Issue 7, Pages 922-936
出版商
Elsevier BV
发表日期
2021-02-16
DOI
10.1016/j.jacc.2020.12.024
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease
- (2020) João B. Augusto et al. Circulation-Cardiovascular Imaging
- Developments in the treatment of Fabry disease
- (2020) Sanne J. Veen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)
- (2020) Malte Lenders et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- An Expert Consensus Document on the Management of Cardiovascular Manifestations of Fabry Disease
- (2020) Aleš Linhart et al. EUROPEAN JOURNAL OF HEART FAILURE
- The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage
- (2020) João B Augusto et al. European Heart Journal-Cardiovascular Imaging
- AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction
- (2020) Makiko Yasuda et al. Molecular Therapy-Methods & Clinical Development
- Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy
- (2019) Frank DeRosa et al. MOLECULAR THERAPY
- Predictors of Clinical Evolution in Prehypertrophic Fabry Disease
- (2019) Antonia Camporeale et al. Circulation-Cardiovascular Imaging
- Quantitative Myocardial Perfusion in Fabry Disease
- (2019) Kristopher D. Knott et al. Circulation-Cardiovascular Imaging
- Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy
- (2019) Giuseppe Limongelli et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
- (2019) Olga Azevedo et al. MOLECULAR GENETICS AND METABOLISM
- Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease
- (2019) Andrea N. Crivaro et al. PLoS One
- The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease
- (2019) Rebecca Perry et al. JACC-Cardiovascular Imaging
- A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology
- (2019) Matthew J. Birket et al. Stem Cell Reports
- Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy
- (2019) Sabrina Nordin et al. Circulation-Cardiovascular Imaging
- OUP accepted manuscript
- (2018) HUMAN MOLECULAR GENETICS
- Fabry Disease: prevalence of affected males and heterozygotes with pathogenicGLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017
- (2018) Dana Doheny et al. JOURNAL OF MEDICAL GENETICS
- Fabry disease revisited: Management and treatment recommendations for adult patients
- (2018) Alberto Ortiz et al. MOLECULAR GENETICS AND METABOLISM
- Proposed Stages of Myocardial Phenotype Development in Fabry Disease
- (2018) Sabrina Nordin et al. JACC-Cardiovascular Imaging
- Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
- (2018) Dominique P. Germain et al. Molecular Genetics & Genomic Medicine
- Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease
- (2018) Malte Lenders et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Lysosomal storage diseases
- (2018) Frances M. Platt et al. Nature Reviews Disease Primers
- Lysosomal storage disorders affecting the heart: a review
- (2018) Vidhya Nair et al. CARDIOVASCULAR PATHOLOGY
- Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
- (2017) Alberto B. Burlina et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Contribution of inflammatory pathways to Fabry disease pathogenesis
- (2017) Paula Rozenfeld et al. MOLECULAR GENETICS AND METABOLISM
- Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
- (2016) Alberto Ortiz et al. JOURNAL OF MEDICAL GENETICS
- Later Onset Fabry Disease, Cardiac Damage Progress in Silence
- (2016) Ting-Rong Hsu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
- (2016) Dominique P. Germain et al. NEW ENGLAND JOURNAL OF MEDICINE
- X-chromosome inactivation in female patients with Fabry disease
- (2015) L. Echevarria et al. CLINICAL GENETICS
- Lyso-Gb3 activates Notch1 in human podocytes
- (2015) Maria D. Sanchez-Niño et al. HUMAN MOLECULAR GENETICS
- Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
- (2015) David G. Warnock et al. PLoS One
- Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases
- (2012) C. Rapezzi et al. EUROPEAN HEART JOURNAL
- Cardiac Microvascular Pathology in Fabry Disease
- (2009) Beth L. Thurberg et al. CIRCULATION
- Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease
- (2008) Cristina Chimenti et al. AMERICAN JOURNAL OF PATHOLOGY
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