Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference14 articles.
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1. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease;Molecular Genetics and Metabolism;2024-09
2. Fabry nephropathy: a treatable cause of chronic kidney disease;Rare Disease and Orphan Drugs Journal;2024-07-11
3. Screening for Fabry disease in patients on Hemodialysis;International Journal of Applied & Basic Medical Research;2024-07
4. Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients;International Journal of Molecular Sciences;2024-05-09
5. Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?;Rare Disease and Orphan Drugs Journal;2024-04-25
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