Article
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
Gene - 25 Jul 2013
Thodi Georgia, Schulpis Kleopatra H, Molou Elina, Georgiou Vassiliki, Loukas Yannis L, Dotsikas Yannis, Papadopoulos Konstantinos, Biti Sofia
Abstract excerpt
Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63,119 neonates were tested for BTD according to a 3-step protocol. Biotinidase activity was initially estimated through standard colorimetric method on dried blood spots, then the suspected samples were subjected to molecular analysis of the BT gene and determination of BT activity in serum through an...
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