Navegação por Assunto "Low biotinidase"

Resultados 1-1 de 1

    • Biotinidase deficiency : clinical and genetic studies of 38 Brazilian patients 

      Borsatto, Taciane; Sperb, Fernanda; Pinto, Louise Lapagesse de Camargo; Luca, Gisele Rozone de; Carvalho, Francisca Ligia Cirilo; Souza, Carolina Fischinger Moura de; Medeiros, Paula Frassinetti Vasconcelos de; Lourenço, Charles Marques; Omena Filho, Reinaldo Luna de; Camargo Neto, Eurico; Bernardi, Pricila; Leistner-Segal, Sandra; Schwartz, Ida Vanessa Doederlein (2014) [Artigo de periódico]
      Background: Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme ...