Biotinidase Deficiency: Rapid Diagnosis Can Make All the Difference

    September 2011 in “ BMJ Case Reports ”
    Abinaya Rajendiran, Sowmya Sampath
    Studysummary This case report describes a 2-month-old male with biotinidase deficiency whose seizures and skin symptoms improved dramatically with oral biotin supplementation.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 2

    1. Biotinidase Deficiency: A Survey of 10 Cases Archives of Disease in Childhood · 1988
    2. Phenotypic Variation in Biotinidase Deficiency ˜The œjournal of pediatrics/˜The œJournal of pediatrics · 1983