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Last Posted: Dec 07, 2023

• Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
  Emanuele Monda et al. Circ Genom Precis Med 2023 e004252
• Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
  Katsuya Nakamura et al. Mol Genet Metab Rep 2023 36100983
• Newborn Screening for Fabry Disease: Current Status of Knowledge
  V Gragnaiello et al, J Per Med, June 2023
• The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.
  Ebru Özpelit et al. Anatolian journal of cardiology 2023 27(4) 223-228
• Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
  Peng Gou et al. Frontiers in pediatrics 2023 111057014
• Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
  Effraimidis Grigoris et al. PloS one 2022 17(11) e0277767
• Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept.
  Di Risi Teodolinda et al. International journal of molecular sciences 2022 23(20)
• Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
  Eskes Eline C B et al. Orphanet journal of rare diseases 2022 17(1) 383
• Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
  Viall Sarah et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
• The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
  Moiseev Sergey et al. Genes 2022 13(9)
• Prevalence of Fabry disease-causing variants in the UK Biobank.
  Gilchrist Mark et al. Journal of medical genetics 2022 8
• Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.
  Citro Rodolfo et al. Frontiers in cardiovascular medicine 2022 9838200
• Newborn screening for Gaucher disease in Japan.
  Sawada Takaaki et al. Molecular genetics and metabolism reports 2022 31100850
• Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021.
  Silva Cassiano Augusto Braga et al. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2022
• Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.
  Chin Sharon J et al. The Lancet regional health. Western Pacific 2022 19100344
• Monogenic Causes of Strokes.
  Chojdak-Lukasiewicz Justyna et al. Genes 2021 12(12)
• Fabry-Stroke Italian Registry (FSIR): a nationwide, prospective, observational study about incidence and characteristics of Fabry-related stroke in young-adults. Presentation of the study protocol.
  Romani Ilaria et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021
• Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond.
  Nowicki Michal et al. International journal of environmental research and public health 2021 18(16)
• Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
  Gragnaniello Vincenza et al. Biomolecules 2021 11(7)
• The Future of Newborn Screening for Lysosomal Disorders.
  Wasserstein Melissa P et al. Neuroscience letters 2021 136080
• The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
  Germain Dominique P et al. Molecular genetics & genomic medicine 2021 e1666
• A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
  Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
• Fabry Disease Therapy: State-of-the-Art and Current Challenges.
  Azevedo Olga et al. International journal of molecular sciences 2020 Dec 22(1)
• Neural-Network-Based Diagnosis Using 3-Dimensional Myocardial Architecture and Deformation: Demonstration for the Differentiation of Hypertrophic Cardiomyopathy.
  Satriano Alessandro et al. Frontiers in cardiovascular medicine 2020 7584727
• Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease.
  Chiang Shu-Chuan et al. International journal of neonatal screening 2018 Dec 4(4) 41
• Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
  Sawada Takaaki et al. Molecular genetics & genomic medicine 2020 Oct e1502
• Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
  Sodré Luciana Senra de Souza et al. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2020 Sep
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
• Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
  Noël Esther et al. Orphanet journal of rare diseases 2019 14(1) 284
• Fabry pedigree analysis: A successful program for targeted genetic approach.
  Rozenfeld Paula A et al. Molecular genetics & genomic medicine 2019 7(7) e00794
• Diagnosis and Screening of Patients with Fabry Disease.
  Vardarli Irfan et al. Therapeutics and clinical risk management 2020 16551-558
• FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.
  Garbade Sven F et al. PloS one 2020 15(4) e0230898
• Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
  Azevedo Olga et al. American heart journal 2020 Apr 226114-126
• The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
  Alharbi Fahad J et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jan 500120-127
• A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
  Stiles Ashlee R et al. Molecular genetics and metabolism 2020 May
• A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
  Puentes-Tellez María Alejandra et al. Heliyon 2020 Mar 6(3) e03635
• Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
  Hoss Sara et al. Circulation. Genomic and precision medicine 2020 Mar
• The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
  Mallett Andrew et al. BMC nephrology 2020 Feb 21(1) 58
• Genetic Testing in Pediatric Kidney Disease.
  Arora Veronica et al. Indian journal of pediatrics 2020 Feb
• Global research on Fabry's disease: Demands for a rare disease.
  Klingelhöfer Doris et al. Molecular genetics & genomic medicine 2020 Feb e1163

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