Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.

Abstract excerpt

OBJECTIVES: This study aimed to investigate the clinical, demographic and laboratory characteristics of the patients referred with a preliminary diagnosis of biotinidase deficiency through the national newborn metabolic screening program. We also attempted to determine the cut-off level of the fluorometric method used for screening biotinidase deficiency by the Ministry of Health. METHODS: A total of 700 subjects...

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