BIOTINIDASE DEFICIENCY IN THE SECOND DECADE WITH ATYPICAL NEUROIMAGING FINDINGS

Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency.Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements.At 14 years, she presented with Bento Box motor regression with encephalopathy after discontinuation of vitamins.There were n

Preprints, versions of scientific manuscripts Garbage/Recycling Container Lids that precede peer review, are growing in popularity.They offer an opportunity to democratize and accelerate research, as they have no publication costs or a lengthy peer review process.Preprints are often later published in peer-reviewed venues, but these publications an