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Expert Opinion on Medical Diagnostics Volume 7, 2013 - Issue 6
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Reviews

Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?

Alison S ThomasRoyal Free Hospital and University College London Medical School, Lysosomal Storage Disorders Unit, London NW3 2QG, UK
, MB BCh MRCP FRCPath (Clinical Research Fellow) &
Atul B MehtaRoyal Free Hospital and University College London Medical School, Lysosomal Storage Disorders Unit, London NW3 2QG, UK+44 207 830 2814; +44 207 317 7665; [email protected]
, MB MBChir MA MD FRCP FRCPath (Professor, Director)
Pages 589-599 | Published online: 16 Oct 2013

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Atul Mehta. (2015) Fabry disease: a review of current enzyme replacement strategies. Expert Opinion on Orphan Drugs 3:11, pages 1319-1330.
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Adrian A. Michalski, Karol Lis, Joanna Stankiewicz, Sylwester M. Kloska, Arkadiusz Sycz, Marek Dudziński, Katarzyna Muras-Szwedziak, Michał Nowicki, Stanisława Bazan-Socha, Michal J. Dabrowski & Grzegorz W. Basak. (2023) Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach. Journal of Clinical Medicine 12:10, pages 3599.
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Fatih Ezgu, Erkan Alpsoy, Zerrin Bicik Bahcebasi, Ozgur Kasapcopur, Melis Palamar, Huseyin Onay, Binnaz Handan Ozdemir, Mehmet Akif Topcuoglu & Omac Tufekcioglu. (2022) Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective. Orphanet Journal of Rare Diseases 17:1.
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Maria Teresa Rocchetti, Federica Spadaccino, Valeria Catalano, Gianluigi Zaza, Giovanni Stallone, Daniela Fiocco, Giuseppe Stefano Netti & Elena Ranieri. (2022) Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects. Metabolites 12:8, pages 703.
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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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Roberto Giugliani, Sandra Marques, Luis G. M. de Andrade, André Pessoa, Maria H. Vaisbich, Angélica Blum, Fernanda Tenório & Nilton S Rosa Neto. (2022) Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives. Journal of Inborn Errors of Metabolism and Screening 10.
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Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Aubert, Olivier Benveniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri & Abdellah Tebani. (2021) Parsing Fabry Disease Metabolic Plasticity Using Metabolomics. Journal of Personalized Medicine 11:9, pages 898.
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Aubrey Milunsky & Jeff M. MilunskyJames E. Davison, Steven E. Humphries, Bryan G. Winchester & Sara E. Mole. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 910 981 .
Chandu Sadasivan, Josie T. Y. Chow, Bun Sheng, David K. H. Chan, Yiting Fan, Paul C. L. Choi, Jeffrey K. T. Wong, Mabel M. B. Tong, Tsz-Ngai Chan, Erik Fung, Kevin K. H. Kam, Joseph Y. S. Chan, Wai-Kin Chi, D. Ian Paterson, Manohara Senaratne, Neil Brass, Gavin Y. Oudit & Alex P. W. Lee. (2020) Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy. PLOS ONE 15:9, pages e0239675.
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Abdellah Tebani, Wladimir Mauhin, Lenaig Abily-Donval, Céline Lesueur, Marc G. Berger, Yann Nadjar, Juliette Berger, Oliver Benveniste, Foudil Lamari, Pascal Laforêt, Esther Noel, Stéphane Marret, Olivier Lidove & Soumeya Bekri. (2020) A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease. Journal of Clinical Medicine 9:5, pages 1325.
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Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia & Francisco J. Castillo. (2019) Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel. JIMD Reports 51:1, pages 53-61.
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​Luis F. Pineda Galindo & Leslie Moranchel García. (2019) Enfermedad de Fabry y enfermedad renal terminal: importancia de la combinación del trasplante renal y la terapia de reemplazo enzimático. Latin american journal of clinical sciences and medical technology 1:1, pages 21-27.
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Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, Ludovica Liguori, Maria Vittoria Cubellis & Bruno Hay Mele. (2018) Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. BMC Bioinformatics 19:S15.
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Raffaele Manna, Roberto Cauda, Sandro Feriozzi, Giovanni Gambaro, Antonio Gasbarrini, Didier Lacombe, Avi Livneh, Alberto Martini, Huri Ozdogan, Antonio Pisani, Eleonora Riccio, Elena Verrecchia & Lorenzo Dagna. (2017) Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin. Internal and Emergency Medicine 12:7, pages 1059-1067.
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Leyla Seymurovna Namazova-Baranova, Alexander Alexandrovich Baranov, Aleksander Alekseevich Pushkov & Kirill Victorovich Savostyanov. (2017) Fabry disease in children: a federal screening programme in Russia. European Journal of Pediatrics 176:10, pages 1385-1391.
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Anne-Louise Savary, Remy Morello, Carole Brasse-Lagnel, Paul Milliez, Soumeya Bekri & Fabien Labombarda. (2017) Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before–after control–impact study. Open Heart 4:1, pages e000567.
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Elena Verrecchia, Daniela Antuzzi, Francesco De Vito, Manuel Soldato, Donato Rigante, Giovanni Gambaro & Raffaele Manna. (2018) Fabry Disease in Internal Medicine: The Role of Fever and Hyperthermia in Diagnosis. Giornale di Tecniche Nefrologiche e Dialitiche 29:1_suppl, pages S12-S15.
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Ricardo Reisin, Amandine Perrin & Pablo García-Pavía. (2017) Time delays in the diagnosis and treatment of Fabry disease. International Journal of Clinical Practice 71:1, pages e12914.
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Elena Verrecchia, Anna Zampetti, Daniela Antuzzi, Roberta Ricci, Lorenzo Ferri, Amelia Morrone, Claudio Feliciani, Lorenzo Dagna & Raffaele Manna. (2016) The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. European Journal of Internal Medicine 32, pages 26-30.
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K. V. Firsov & A. S. Kotov. (2016) The neurological manifestations of Fabry disease. A review. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 116:9, pages 98.
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Steven Humphries, Sara Mole & Bryan Winchester. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 773 837 .
Paula A Rozenfeld, Romina Ceci, Norma Roa & Isaac Kisinovsky. (2015) The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina. Journal of Inborn Errors of Metabolism and Screening 3, pages 232640981561380.
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Wladimir Mauhin, Olivier Lidove, Elisa Masat, Federico Mingozzi, Kuberaka Mariampillai, Jean-Marc Ziza & Olivier Benveniste. 2015. JIMD Reports, Volume 22. JIMD Reports, Volume 22 1 10 .

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