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| C. Neto,E.; Schulte,J.; Rubim,R.; Lewis,E.; DeMari,J.; Castilhos,C.; Brites,A.; Giugliani,R.; Jensen,K.P.; Wolf,B.. |
| 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 mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Newborn screening; Biotinidase deficiency; Biotinidase; Mutations; Enzyme assay. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300001 |
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| Tomazett,Mariana Vieira; Zanoelo,Fabiana Fonseca; Bailão,Elisa Flávia Cardoso; Bailão,Alexandre Melo; Borges,Clayton Luiz; Soares,Célia Maria de Almeida. |
| Abstract Carbonic anhydrases (CA) belong to the family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. In the present work, we characterized the cDNAs of four Paracoccidioides CAs (CA1, CA2, CA3, and CA4). In the presence of CO2, there was not a significant increase in fungal ca1, ca2 and ca4 gene expression. The ca1 transcript was induced during the mycelium-to-yeast transition, while ca2 and ca4 gene expression was much higher in yeast cells, when compared to mycelium and mycelium-to-yeast transition. The ca1 transcript was induced in yeast cells recovered directly from liver and spleen of infected mice, while transcripts for ca2 and ca4 were down-regulated. Recombinant CA1 (rCA1) and CA4 (rCA4), with 33... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Carbonic anhydrases; Paracoccidioides; CO2; Gene expression; Enzyme assay. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300416 |
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