Article
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Mar 2004
Neto E C, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C, Brites A, Giugliani R, Jensen K P, Wolf B
Abstract excerpt
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.