Fabry Disease
What's New
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
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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