Overview
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to the accumulation of glycosphingolipids in various tissues, including the kidneys, heart, and nervous system, resulting in multisystem involvement. 1866Diagnosis
Management
Special Populations
Key Recommendations
References
Showing 100 most recent of 777 indexed papers.
1 Reynolds D, Gattuso JS, Hines-Dowell S, Rassam RS, Abraham M, Mandrell B. Translating Evidence Into Action: A Collaboration Model Between DNP and PhD Nurses in Pediatric Hematology-Oncology. Clinical journal of oncology nursing 2026. link 2 Sacchi de Camargo Correia G, Hazim AZ, Zheng-Lin B, Gannon N, Boyle AWR, Crowe S et al.. Study of the Perceptions and Concerns of a Single Health System Hematology and Oncology Workforce About Artificial Intelligence in Clinical Practice and Medical Education. JCO clinical cancer informatics 2026. link 3 Rees M, Bernstein R, Meredith C, Aldridge S, Wade A, Inaba H et al.. Improving Fellow Continuity Clinic With Multiple Subspecialties: A Quality Improvement Initiative. Pediatric blood & cancer 2026. link 4 Bergadano A, Borello L, Resente F, Chialvo P, Amicucci M, Rostagno E et al.. The Oncology/Hematology Telephone Triage Toolkit for Children and Young People: A Linguistic Validation. Journal of pediatric hematology/oncology nursing 2026. link 5 Camporeale A, De Angeli G, Guida G, Pieruzzi F, Econimo L, Lusardi P et al.. Impact of cardiac magnetic resonance on the clinical management of patients with Fabry disease: Data from the CMR Italian research and CLinical nEtwork for Fabry disease (CIRCLE-FD). International journal of cardiology 2026. link 6 Kanamori H, Naruse G, Minatoguchi S, Ishiguro M, Yoshida A, Okura H. Pathological capillary analysis of ischemia with non-obstructive coronary arteries in a Fabry disease patient receiving enzyme replacement therapy. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2026. link 7 Meucci MC, Lillo R, Del Franco A, Monda E, Iannaccone G, Ditaranto R et al.. Sex-specific prognostic thresholds of left ventricular hypertrophy in fabry disease. European heart journal. Cardiovascular Imaging 2026. link 8 Nguyen THY, Nguyen QT, Ducatez F, Tebani A, Nguyen PL, Bekri S. Exploring a plasma proteomic biosignature associated with cardiac involvement in Fabry disease. Journal of molecular medicine (Berlin, Germany) 2026. link 9 He S, Yang L, Wan K, Zheng Z, Leng M, Gan C et al.. Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease. Journal of inherited metabolic disease 2026. link 10 Fan J, Zhao R, Wang J, Zhu J, Kong J, Sun S et al.. Multimodality imaging assessment of cardiac involvement in classic and late-onset Anderson-Fabry disease. International journal of cardiology 2026. link 11 Enders JD, Prodoehl EK, Sriram A, Penn SM, Stucky CL. Episodic pain in Fabry disease is mediated by a heat shock protein-transient receptor potential cation channel A1 axis. Pain 2026. link 12 Kanamori H, Yoshida T, Matsumoto H, Naruse G, Minatoguchi S, Okura H. Usefulness of electron microscopy in the diagnosis of heterozygous Fabry disease with left ventricular outflow tract obstruction masquerading as hypertrophic cardiomyopathy. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2026. link 13 Chen YY, Zhou YR, Jiang ZP, Wang SX, Shao D. A Case of 99m Tc-Pyrophosphate Myocardial Scintigraphy Positivity in Fabry Disease. Clinical nuclear medicine 2026. link 14 Xie WL, Li HH, Li D, Li JY, Deng AP. A real-world pharmacovigilance analysis for agalsidase beta: findings from the FDA adverse event reporting database. Expert opinion on drug safety 2026. link 15 Hughes DA, Pintos-Morell G, Kampmann C, Anagnostopoulou C, Botha J, Jain S et al.. Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey. European journal of clinical investigation 2026. link 16 Simonetta I, Baglio I, Tuttolomondo A. Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease. Cells 2026. link 17 Levstek T, Breznik N, Balant Marin K, Podkrajšek T, Vujkovac B, Nowak A et al.. A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease. Molecular genetics and metabolism 2026. link 18 Cárdenas-Aguilera JG, Chacón-Acevedo KR, Zarante-Bahamón AM, Serrano-Gayubo AK, Prieto-Rivera JC, Meza-Martínez AI et al.. Diagnosis, treatment, and follow-up of Fabry disease in pediatrics. Molecular genetics and metabolism 2026. link 19 Erbacher C, Andrews A, Sauerwein T, Breyer M, Arampatzi P, Koch M et al.. Axon guidance deficits in a human sensory-like neuron model of Fabry disease. Experimental neurology 2026. link 20 Côté MA, Barde L, Voisine É, Jeantin C, Steinberg C, Sénéchal M. Cardiac manifestations of Fabry disease: are women getting enough attention?. Acta cardiologica 2026. link 21 Al Saleh T, Qadeer YK, Yue B, Pieroni M, Hachem KE, Poswar FO et al.. Fabry disease cardiomyopathy: A practical guide for cardiologists. Current problems in cardiology 2026. link 22 Gomi T, Matsushima S, Baba A, Tsunogai T, Shimizu T, Kuribayashi H et al.. Magnetic resonance imaging morphological features of the cisternal segment of the trigeminal nerve in Fabry disease. Neuroradiology 2026. link 23 Zichao X, Wei X, Hai Y, Jianyue W. Recurrent intracranial hemorrhage secondary to congenital factor XIII deficiency: A case report and literature review. Medicine 2026. link 24 Verma R, Cleuren A, Hinkovska-Galcheva V, Decker I, Kelly R, Ginsburg D et al.. Heat shock protein 70s are modifiers of endothelial function in Fabry disease. Kidney international 2026. link 25 Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB et al.. A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. Journal of inherited metabolic disease 2026. link 26 Guo W, Ji P, Li Y, Zhang Y, Bi J, Xie Y. Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. Journal of advanced research 2026. link 27 Li S, Yu P, Wang H, Liu M, Wang Q, Li Z et al.. Intravenous administration of EXG110 resulted in substrate correction in Fabry mice and sustained enzyme activity in non-human primates. Molecular therapy : the journal of the American Society of Gene Therapy 2026. link 28 Tsuboi K, Masago A, Asai C, Yamada K. Detection of mulberry bodies using molecular imaging flow cytometry. Clinical and experimental nephrology 2026. link 29 Kubo T, Maekawa Y, Hongo K, Yamamoto S, Izumiya Y, Yamakawa H et al.. Cardiac characteristics of Fabry disease from baseline enrolment data in a nationwide prospective Japanese registry. International journal of cardiology 2026. link 30 Ghassemi H, Hashemi A, Ghochani G, Seyedi SZ, Esmaili K, Aminizade M. A Novel GLA Gene Variant in Fabry Disease: Corneal Verticillata and Multimodal Ocular Imaging Findings. Cornea 2026. link 31 Hashmi SK, Berg F, Mikkelsen MK, Bhatt N, Inaba H, Moreira DC. Pediatric Hematology/Oncology Fellowship Match Trends in the United States: Analysis From 2008 to 2025. Pediatric blood & cancer 2025. link 32 Jungnitsch J, Korsholm K, Asmar F, Møller S. Nuclear medicine in hematology: Bridging diagnostics and therapy. Clinical physiology and functional imaging 2025. link 33 Davis M, Johnson S, Burlison J, Slone J. A Blueprint for Care: Adapting and Implementing Standardized Triage in Pediatric Hematology and Oncology. Journal of pediatric hematology/oncology nursing 2025. link 34 Hornstein PR, Falade AS, Triedman SA, Lehmann LE, Fadelu TA. Global health training opportunities during pediatric hematology/oncology fellowship: Results from a survey of program leaders. Pediatric blood & cancer 2025. link 35 Ruiz J, Robles JM, Sánchez LM, Khan A, Lu AD, Marjerrison S et al.. Achieving Language Justice in Pediatric Hematology-Oncology: A Multinational Perspective for Language-Concordant Equitable Patient- and Family-Centered Care and Research Inclusion. Pediatric blood & cancer 2025. link 36 Kaittanis C, Teceno T, Knight A, Petibon Y, Sandoval P, Cohen L et al.. Longitudinal imaging of therapeutic enzyme expression after gene therapy for Fabry disease using positron emission tomography and the radiotracer . Molecular therapy : the journal of the American Society of Gene Therapy 2025. [link 37 Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B et al.. Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. International journal of molecular sciences 2025. link 38 Mignani R, Biagini E, Cianci V, Pieruzzi F, Pisani A, Tuttolomondo A et al.. Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice. Advances in therapy 2025. link 39 Bekhite MM, Hübner S, Kretzschmar T, Backsch C, Weise A, Klein E et al.. Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A). Stem cell research 2025. link 40 Zhang P, Wang Y, Jiang G, Zhang Y, Chen Y, Peng Y et al.. c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect. Gene 2025. link 41 Moura AP, Hammerschmidt TG, Guerreiro G, Aguilar C, Faverzani JL, Lopes FF et al.. Long-term enzyme replacement therapy in Fabry patients protects against oxidative and inflammatory process. Naunyn-Schmiedeberg's archives of pharmacology 2025. link 42 Zhou X, Li Y, Zhao Y, Yan X, Zhang W, Wu Y. Corneal neuro-immune crosstalk in Fabry disease: An in vivo confocal microscopic study. Journal of neuroimmunology 2025. link 43 Lin CJ, Yang FJ, Wu CJ, Wu MJ, Wu MS. Insights of Fabry disease: Expert consensus approach for screening, diagnosis, and multidisciplinary management in chronic kidney disease. Journal of the Formosan Medical Association = Taiwan yi zhi 2025. link 44 Lenders M, Menke ER, Rudnicki M, Cybulla M, Brand E. Relevance of Neutralizing Antibodies for the Pharmacokinetics of Pegunigalsidase Alfa in Patients with Fabry Disease. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2025. link 45 Olszewska M, Schwermer K, Pawlaczyk K. Newborn Screening in Fabry Disease. International journal of molecular sciences 2025. link 46 Steiner D, Horváth-Puhó E, Jørgensen H, Laugesen K, Ay C, Sørensen HT. Risk of Depression after Venous Thromboembolism in Patients with Hematological Cancer: A Population-Based Cohort Study. Thrombosis and haemostasis 2025. link 47 Lenders M, Rudolph E, Rudnicki M, Cybulla M, Brand E. A rapid method to reduce drug interferences for antibody measurements in pegunigalsidase alfa-treated patients with Fabry disease. Frontiers in immunology 2025. link 48 Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q et al.. Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. Frontiers in immunology 2025. link 49 Mannan F, Chinnadurai R, Wiltshire R, Hansel J, Stepien KM, Sharma R et al.. Epidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centre. Journal of nephrology 2025. link 50 Li J, Pu L, Xu Z, Wan K, Xu Y, Wang J et al.. Screening for Fabry disease in patients with hypertrophic cardiomyopathy using cardiac magnetic resonance imaging. European radiology 2025. link 51 Tsatsaronis A, Tiong M, Nicholls K, Ruderman I. Sodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series. Internal medicine journal 2025. link 52 Tsukimura T, Kami D, Shiga T, Togawa T, Gojo S, Sakuraba H. Use of a mouse-human chimeric anti-α-galactosidase A monoclonal antibody as a reference for measuring serum antidrug antibody titers in patients with Fabry disease. Molecular genetics and metabolism 2025. link 53 Azimpour K, Tordoff-Gibson C, Dorling P, Koulinska I, Kunduri S, Laliman-Khara V et al.. Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review. Advances in therapy 2025. link 54 Kanad N, Özalp Gerçeker G, Eker İ, Şen Susam H. The effect of virtual reality on pain, fear and emotional appearance during blood draw in pediatric patients at the hematology-oncology outpatient clinic: A randomized controlled study. European journal of oncology nursing : the official journal of European Oncology Nursing Society 2024. link 55 Agedal KJ, Steidl KE, Burgess JL, Seabury RW, Wojnowicz SR. Does circle priming improve smart infusion pump and electronic health record interoperability for chemotherapy in a pediatric hematology/oncology setting?. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2024. link 56 Murayama A, Kugo H, Kamamoto S. Evaluation of non-research and research industry payments to pediatric hematologist/oncologists in the United States between 2013 and 2021. Leukemia & lymphoma 2024. link 57 Spikestein A, Musante J, Huang HH, Stojanowski M, Rode D, Pillai P et al.. Impact of Facility Dog and Certified Child Life Specialist Dyad on Children's Pain and Anxiety During Needlestick Procedures in a Pediatric Hematology Oncology Clinic Setting. Journal of pediatric hematology/oncology 2024. link 58 Gülkan Özkan S, Kimiaei A, Kaya AH, Pepeler MS, Özkan HA, Arat M. Turkish Hematologists’ Preferences for Related Donor Selection: Results of a Multicenter Survey. Turkish journal of haematology : official journal of Turkish Society of Haematology 2024. link 59 Agrawal S, Patell R, Dodge LE, Pegher JW, Coleman RL, Waterhouse DM et al.. Defining the Educational Needs for a Community-Based Hematology/Oncology Career: A National Needs Assessment. JCO oncology practice 2024. link 60 Campbell K, Harris F, Stoddart K. The Hematology Cancer Patient Experience of "Facing Death" in the Last Year of Life: A Constructivist Grounded Theory Study. Cancer nursing 2024. link 61 Shima H, Tsukimura T, Shiga T, Togawa T, Sakuraba H, Doi T et al.. Effects of switching from agalsidase-α to agalsidase-β on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report. CEN case reports 2024. link 62 Hwu WL. Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease. Journal of the Formosan Medical Association = Taiwan yi zhi 2024. link 63 Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H. Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients. Internal medicine (Tokyo, Japan) 2024. link 64 Ozer H, Baloglu I, Topkac A, Ozturk Y, Yonet F, Daglı F et al.. Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick?. Nefrologia 2024. link 65 Del Franco A, Iannaccone G, Meucci MC, Lillo R, Cappelli F, Zocchi C et al.. Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal. Heart failure reviews 2024. link 66 Weissman D, Dudek J, Sequeira V, Maack C. Fabry Disease: Cardiac Implications and Molecular Mechanisms. Current heart failure reports 2024. link 67 Furia A, Ditaranto R, Biagini E, Parisi V, Incensi A, Parisini S et al.. Fabry disease in W162C mutation: a case report of two patients and a review of literature. BMC neurology 2024. link 68 García Sebastián C, Climent Payá V, Castillo JC, Urbano-Moral JÁ, Ruz Zafra A, Valle Caballero MJ et al.. Prevalence of Fabry disease in patients with left ventricular hypertrophy and renal involvement (PrEFaCe). Medicina clinica 2024. link 69 Moore M, Northey JM, Crispin P, Semple S, Toohey K. Effects of Exercise Rehabilitation on Physical Function in Adults With Hematological Cancer Receiving Active Treatment: A Systematic Review and Meta-Analysis. Seminars in oncology nursing 2023. link 70 Sun YH, Nie WJ, Tian DD, Ye Q. Lupus anticoagulant-hypoprothrombinemia syndrome in children: Three case reports and systematic review of the literature. Lupus 2023. link 71 Moreira DC, Metzger ML, Antillón-Klussmann F, González-Ramella O, Gao Y, Bazzeh F et al.. Development of EPAT: An assessment tool for pediatric hematology/oncology training programs. Cancer 2023. link 72 Delrue C, Speeckaert R, Oyaert M, Kerre T, Rottey S, Coopman R et al.. Infrared Spectroscopy: A New Frontier in Hematological Disease Diagnosis. International journal of molecular sciences 2023. link 73 Miller ME, Rahim MQ, Coven SL, Jacob SA, Zimet GD, Meagher CG et al.. Pediatric hematology and oncology physician and nurse practitioner views of the HPV vaccine and barriers to administration. Human vaccines & immunotherapeutics 2023. link 74 Patel SR, Riano I, Abuali I, Ai A, Geiger G, Pimienta J et al.. Race/Ethnicity and Gender Representation in Hematology and Oncology Editorial Boards: What is the State of Diversity?. The oncologist 2023. link 75 Greenmyer JR, Ngo T, Smith M, Collura C, Schiltz B, McCarthy SR. Consultation patterns before and after embedding pediatric palliative care into a pediatric hematology/oncology clinic. Pediatric blood & cancer 2023. link 76 Emecen Sanli M, Kilic A, Inci A, Okur I, Ezgu F, Tumer L. Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy. Journal of pediatric endocrinology & metabolism : JPEM 2023. link 77 Tal AL, Bailey KA, Chou A, Offer K, Rosenblum J, Moerdler S et al.. v-SYMPHONY career development series: A collaboration to enhance professional awareness for pediatric hematology oncology trainees. Pediatric blood & cancer 2023. link 78 Gilchrist M, Casanova F, Tyrrell JS, Cannon S, Wood AR, Fife N et al.. Prevalence of Fabry disease-causing variants in the UK Biobank. Journal of medical genetics 2023. link 79 Halfmann MC, Altmann S, Schoepf UJ, Reichardt C, Hennermann JB, Kreitner KF et al.. Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. European radiology 2023. link 80 Choi JB, Seo D, Do HS, Han YM. Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del). Stem cell research 2023. link 81 Riccio E, Pisani A. New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage. Clinical genetics 2023. link 82 Jiang S, Chen Y, Xie H, Liu M, Zheng X, Wang M. A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report. Hamostaseologie 2023. link 83 Muto R, Suzuki Y, Shimizu H, Yasuda K, Ishimoto T, Maruyama S et al.. Recurrent Cerebrovascular Complications under Enzyme Replacement Therapy in a Patient with Fabry Disease on Peritoneal Dialysis. Internal medicine (Tokyo, Japan) 2023. link 84 Meucci MC, Lillo R, Mango F, Lombardo A, Lanza GA, Parisi V et al.. Right ventricular strain in Fabry disease: Prognostic implications. International journal of cardiology 2023. link 85 Cheong CSY, Khan SU, Ahmed N, Narayanan K. Identification of dual active sites in . Journal of biomolecular structure & dynamics 2023. link 86 Kubota T, Tsukimura T, Shiga T, Togawa T, Sakuraba H. Monitoring of anti-drug antibodies and disease-specific biomarkers in three patients from a Japanese Fabry family treated with enzyme replacement therapy. CEN case reports 2023. link 87 Vicente R, Santos I, Coimbra M, Santos J, Santos R, Amoedo M et al.. D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?. Nefrologia 2023. link 88 Müntze J, Lau K, Cybulla M, Brand E, Cairns T, Lorenz L et al.. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. Molecular genetics and metabolism 2023. link 89 Nasu M, Nakagawa N, Hara S, Yano J, Kurokawa Y, Nakamura N et al.. A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry. Clinical and experimental nephrology 2023. link 90 Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A et al.. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Molecular genetics and metabolism 2023. link 91 Perera K, Kashyap N, Wang K, Omar F, Prosia E, Thompson RB et al.. Integrating Cardiac MRI Imaging and Multidisciplinary Clinical Care is Associated With Improved Outcomes in Patients With Fabry Disease. Current problems in cardiology 2023. link 92 Fingrova Z, Havranek S, Sknouril L, Bulava A, Vancura V, Chovanec M et al.. Screening of Fabry disease in patients with an implanted permanent pacemaker. International journal of cardiology 2023. link 93 Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E et al.. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Molecular genetics and metabolism 2023. link 94 Strunk D, Becker J, Veltkamp R, Meuth SG, Bauer P, Böttcher T et al.. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023. link 95 Imasawa T, Murayama K, Sawada T, Hirose M, Takayanagi M, Nakamura K. High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan. Clinical and experimental nephrology 2023. link 96 Hughes DA, Bichet DG, Giugliani R, Hopkin RJ, Krusinska E, Nicholls K et al.. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Journal of medical genetics 2023. link 97 Corchete Prats E, González-Parra E, Vega A, Macías N, Delgado M, Fernández M et al.. Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community. Nefrologia 2023. link 98 Chang HC, Kuo L, Sung SH, Weng CY, Chen CK, Niu DM et al.. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification. Journal of the American Heart Association 2023. link 99 Frustaci A, Borghetti V, Pentiricci S, Verardo R, Scialla R, Russo MA. Hypertrophic obstructive cardiomyopathy caused by Fabry disease: implications for surgical myectomy. ESC heart failure 2023. link 100 Marek J, Chocholová B, Rob D, Paleček T, Mašek M, Dostálová G et al.. Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis. European heart journal. Cardiovascular Imaging 2023. link