Last Posted: Oct 08, 2021
- 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
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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