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

@article{Neto2004NewbornSF,
  title={Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.},
  author={Eurico Camargo Neto and Joann Schulte and Rafael L Rubim and Edwin Lewis and Joseph A DeMari and Cristina D Castilhos and Anabela Brites and Roberto Giugliani and Kevin P. Jensen and Barry Wolf},
  journal={Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas},
  year={2004},
  volume={37 3},
  pages={295-9}
}
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 activity confirmed that 3 had profound biotinidase deficiency (less than 10% of… CONTINUE READING

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Disorders of biotin metabolism

B Wolf
8th edn. McGraw-Hill, • 2001

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