Last Posted: Aug 21, 2022
- Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist Mark et al. Journal of medical genetics 2022 8
- 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
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
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.