What is it about?

biotinidase activity (BA), such as different substrates, biological samples, and analytical techniques. In this study, we aimed to discuss the specificity and sensitivity of the fluorometric method used in the measurement of biotinidase activity in the newborn screening program (NSP) in Turkey.

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Why is it important?

Medical records of 164 patients who were referred to our clinic with the diagnosis of biotinidase deficiency (BD) from primary health care institutions were evaluated retrospectively. According to this classification, those with normal BA were included in the negative group and those with partial or profound BD were included in the positive group

Perspectives

It was thought that low efficacy of fluorometric method used for the diagnosis of BD in the NSP may cause diagnostic delay. It is thought that a more effective neonatal screening program can be applied by using tandem mass spectrometer method. annalsmedres.org sitesinde

Halil Kazanasmaz
Harran Universitesi

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This page is a summary of: Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method, Annals of Medical Research, January 2019, ScopeMed International Medical Journal Management and Indexing System,
DOI: 10.5455/annalsmedres.2019.07.415.
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