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Zakiye Ganjei, Rahem Rahmati, Mohammad Yazdan Panah, Fatemeh Zari Meidani & Azam Mosavi. (2023) Solitary angiokeratoma as unusual presentation of Fabry disease: a case report. International Journal of Dermatology 62:6.
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Yunjung Choi, Taedong Ok & Kyung-Yul Lee. (2023) Fabry disease screening in young patients with acute ischemic stroke in Korea. Cardiovascular Prevention and Pharmacotherapy 5:2, pages 54-60.
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Tevfik F. Ismail, Simon Frey, Beat A. Kaufmann, David J. Winkel, Daniel T. Boll, Michael J. Zellweger & Philip Haaf. (2023) Hypertensive Heart Disease—The Imaging Perspective. Journal of Clinical Medicine 12:9, pages 3122.
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Jessica Gambardella, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Alessandro Viti, Eduardo Sommella, Fabrizio Merciai, Emanuela Salviati, Pietro Campiglia, Valeria D’Argenio, Silvia Parisi, Antonio Bianco, Letizia Spinelli, Eugenio Di Vaia, Alberto Cuocolo, Antonio Pisani, Eleonora Riccio, Teodolinda Di Risi, Michele Ciccarelli, Gaetano Santulli, Daniela Sorriento & Guido Iaccarino. (2023) Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease. iScience 26:3, pages 106074.
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Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero & Roser Torra. (2023) The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet Journal of Rare Diseases 18:1.
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Jessica Gambardella, Antonella Fiordelisi, Daniela Sorriento, Federica Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Antonio Pisani, Fahimeh Varzideh, Eleonora Riccio, Gaetano Santulli & Guido Iaccarino. (2023) Mitochondrial microRNAs Are Dysregulated in Patients with Fabry Disease. Journal of Pharmacology and Experimental Therapeutics 384:1, pages 72-78.
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Walter Zidek. 2020. Die Ärztliche Begutachtung. Die Ärztliche Begutachtung
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Charles Marques Lourenço. 2023. Amyloidosis and Fabry Disease. Amyloidosis and Fabry Disease
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Yu.V. Flomin, T.V. Hetman, M.V. Guliaieva, I.R. Havryliv & O.S. Tsurkalenko. (2022) Determining the etiology of cerebral stroke: from the most prevalent to rare causes. Ukrainian Interventional Neuroradiology and Surgery 40:2, pages 14-40.
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Moritz C. Halfmann, Sebastian Altmann, U. Joseph Schoepf, Constantin Reichardt, Julia B. Hennermann, Karl-Friedrich Kreitner, Roman Kloeckner, Felix Hahn, Christoph Dueber, Akos Varga-Szemes, Christoph Kampmann & Tilman Emrich. (2022) Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. European Radiology 33:3, pages 2039-2051.
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Dominique P. Germain, Gheona Altarescu, Roberto Barriales-Villa, Renzo Mignani, Krzysztof Pawlaczyk, Federico Pieruzzi, Wim Terryn, Bojan Vujkovac & Alberto Ortiz. (2022) An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Molecular Genetics and Metabolism 137:1-2, pages 49-61.
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Marina Grigolashvili, Ekaterina Kim, Shynar Muratbekova, Sholpan Omarova, Amirzhan Smagulov, Guldana Bektas, Rustam Tuleuov, Saltanat Madibraimova, Artyom Pakhomov, Olga Parkhanovich, Ekaterina Pogorelova & Gulsara Kiyakpaeva. (2022) Neurological Manifestations of Fabry Disease: Literature Review. Open Access Macedonian Journal of Medical Sciences 10:F, pages 620-626.
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Victoria N. Gorbunova, Natalia V. Buchinskaia, Grigorii A. Janus & Mikhail M. Kostik. (2022) Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases. Pediatrician (St. Petersburg) 13:2, pages 61-88.
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Carmen Muntean, Iuliana Magdalena Starcea, Cristina Stoica & Claudia Banescu. (2022) Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease. Frontiers in Pediatrics 10.
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Wenping Li & Stephanie M. Cologna. (2022) Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders. Molecular Omics 18:4, pages 256-278.
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Marco Angelo Monte, Massimiliano Veroux, Margherita Stefania Rodolico, Valentina Losi, Luigi Di Pino, Rita Bella, Giuseppe Lanza & Ines Paola Monte. (2022) Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach. Life 12:5, pages 623.
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Klaus Harzer, Stefanie Beck‐Wödl & Tobias B. Haack. (2021) Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings. Journal of Cutaneous Pathology 49:3, pages 293-298.
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Frank Weidemann, Ana Jovanovic, Ken Herrmann & Irfan Vardarli. (2022) Chaperone Therapy in Fabry Disease. International Journal of Molecular Sciences 23:3, pages 1887.
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Dejan Celic, Sonja Pavlovic, Anita Skakic, Jelica Vucenovic, Dragana Pilipovic, Sonja Golubovic, Tatjana Stojsic, Olivera Milicevic, Goran Vojinovic, Svetlana Dudic, Lada Petrovic & Igor Mitic. (2022) High risk population screening for Fabry disease in hemodialysis patients in Vojvodina: Pilot study. Srpski arhiv za celokupno lekarstvo 150:5-6, pages 281-287.
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Hongwen Zhou, Zhoulu Wu, Yiwen Wang, Qinyi Wu, Moran Hu, Shuai Ma, Min Zhou, Yan Sun, Baowen Yu, Jingya Ye, Wanzi Jiang, Zhenzhen Fu & Yingyun Gong. 2022. Sphingolipid Metabolism and Metabolic Disease. Sphingolipid Metabolism and Metabolic Disease
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Juan Fernando Ortiz, Jashank Parwani, Paul W Millhouse, Ahmed Eissa-Garcés, Gashaw Hassen, Victor D Cuenca, Mateo I Alzamora, Mahika Khurana, Domenica Herrera-Bucheli, Abbas Altamimi, Adam Atoot & Wilson Cueva. (2021) Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review. Cureus.
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Irfan Vardarli, Manuel Weber, Christoph Rischpler, Dagmar Führer, Ken Herrmann & Frank Weidemann. (2021) Fabry Cardiomyopathy: Current Treatment and Future Options. Journal of Clinical Medicine 10:14, pages 3026.
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Tobias Böttcher & T. Duning. (2021) Morbus Fabry in der NeurologieFabry disease in neurology. DGNeurologie 4:3, pages 205-215.
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Antonino Lupica, Vincenzo Di Stefano, Andrea Gagliardo, Salvatore Iacono, Antonia Pignolo, Salvatore Ferlisi, Angelo Torrente, Sonia Pagano, Massimo Gangitano & Filippo Brighina. (2021) Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?. Brain Sciences 11:3, pages 398.
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Dimitri Hemelsoet, Jan De KeyserFrederic Van HeuverswynRik WillemsHans VandekerckhoveAntoine BondueCarlo de AsmundisJohan SaenenStefaan Van de WallePascal GodartChristoph Kampmann, Hedwig StepmanBruce PoppeWim Terryn. (2021) Screening for Fabry Disease in Male Patients With Arrhythmia Requiring a Pacemaker or an Implantable Cardioverter–Defibrillator. Circulation 143:8, pages 872-874.
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