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Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis
- Source :
- Genetics in Medicine
- Publication Year :
- 2019
- Publisher :
- Nature Publishing Group US, 2019.
-
Abstract
- Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.Between 1 July 2014 and 31 December 2015, we screened 2,359 patients (1,324 males) referred from 168 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively.Of 8 males with elevated lyso-Gb3 levels (≥2.0 ng mlPlasma lyso-Gb3 is a potential primary screening biomarker for classic and late-onset Fabry disease probands.
- Subjects :
- Oncology
Male
medicine.medical_specialty
Genetic analysis
Risk Factors
Internal medicine
Medicine
Humans
Genetic Testing
Genetics (clinical)
Aged
Sphingolipids
High risk patients
business.industry
Patient Selection
Correction
Lyso gb3
Middle Aged
medicine.disease
Fabry disease
Galactosidases
Mutation
Biomarker (medicine)
Medical genetics
Fabry Disease
Female
Glycolipids
business
Biomarkers
Subjects
Details
- Language :
- English
- ISSN :
- 15300366 and 10983600
- Volume :
- 21
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Genetics in Medicine
- Accession number :
- edsair.doi.dedup.....cd5d1aea68f969e5cc99d322218c524a