Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results

Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results

Diagnosis of Biotinidase deficiency (BTD) is extremely important to avoid several neurodevelopmental problems in early childhood. Colorimetric and fluorometric methods lack specificity and selectivity due to several interferences resulting in a high number of false positive results. We developed an...

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Bibliografische gegevens
Hoofdauteurs: Abdul Rafiq Khan, Souad Al-Enazi, Areej Al-Gahtani, Saleh Al-Zahrani, Syed Muhammad Saad, Khalid Mohammed Khan, Ali Alothaim
Formaat: Artikel
Taal:English
Gepubliceerd in: Elsevier 2024-03-01
Reeks:Molecular Genetics and Metabolism Reports
Onderwerpen:
Serum Biotinidase
HPLC-FL method
Validation
Quantification
4-Aminobenzoic acid
Online toegang:http://www.sciencedirect.com/science/article/pii/S2214426923000915

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http://www.sciencedirect.com/science/article/pii/S2214426923000915

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