Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.

Abstract excerpt

Newborn screening for biotinidase deficiency has identified children with profound biotinidase deficiency (less than 10% of mean normal activity) and about an equal number of children with partial biotinidase deficiency (10 to 30% of mean normal activity). Partial biotinidase deficiency was initially considered a variant without clinical consequences until one child, during an episode of gastroenteritis,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amidohydrolases
• Share to Cross Reactions
• Share to Immunochemistry