• Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations 

      Camargo Neto, Eurico; Schulte, Jaqueline; Rubim, Rosália; Lewis, E.; De Mari, Jurema de Fatima; Castilhos, C.; Brites, Adriana; Giugliani, Roberto; Jensen, K.P.; Wolf, B. (2004) [Artigo de periódico]
      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 ...