Listar por autor "Schulte, Jaqueline"
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Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: initial results in Brazil
Camargo Neto, Eurico; Schulte, Jaqueline; Pereira, Jamile Queiroz; Villalta, Heydy Varinia Bravo; Sampaio Filho, Claudio Augusto; Giugliani, Roberto (2018) [Artículo de periódico]We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients ... -
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) [Artículo 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 ...