Last Posted: Jan 14, 2021
- 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)
- 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)
- 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
- 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
- Global research on Fabry's disease: Demands for a rare disease.
Klingelhöfer Doris et al. Molecular genetics & genomic medicine 2020 Feb e1163
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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