Urinary screening for Fabry disease

Posted by & filed under Newborn screening, Part 06: DIAGNOSTIC APPROACHES, Part 16: LYSOSOMAL DISORDERS.

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin

J Inherit Metab Dis, January 2007

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

 

 

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