A novel c.197T <FONT FACE=Symbol>®</FONT> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

A novel c.197T <FONT FACE=Symbol>®</FONT> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is the most common enzyme deficiency worldwide, causing a spectrum of diseases including neonatal hyperbilirubinemia and acute or chronic hemolysis. We used the methemoglobin reduction test and G6PD electrophoresis to screen 655 neonat...

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Bibliographic Details
Main Authors: José Pereira de Moura Neto, Marcos Vinícius Dourado, Mitermayer Galvão dos Reis, Marilda Souza Gonçalves
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2008-01-01
Series:Genetics and Molecular Biology
Subjects:
glucose-6-phosphate dehydrogenase deficiency
G6PD mutations
neonatal screening
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100006

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100006

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