Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population

    December 2019 in “ Molecular genetics and metabolism reports ”
    M. Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob … Anasufiza Habib
    Studysummary This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
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    Research cited in this study 1

    1. Partial Biotinidase Deficiency: Clinical and Biochemical Features The Journal of Pediatrics · 1990