Effect of BTD gene variants on in vitro biotinidase activity.
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DOI: 10.1016/j.ymgme.2019.07.006
Abstract: INTRODUCTION Biotinidase deficiency (BD), an autosomal recessive disease, is classified into profound (activity C (p.Asp444His), which is associated with partial BD. In vivo studies indicate that this variant reduces the biotinidase activity by 50%. The… read more here.
Keywords: biotinidase activity; variant; effect; biotinidase ... See more keywords