Article
A prolonged neonatal jaundice associated with a rare G6PD mutation.
Pediatric blood & cancer - 1 Sept 2009
Minucci Angelo, Concolino Paola, De Luca Daniele, Giardina Bruno, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD), a X-linked hereditary deficiency, is one of most common clinically significant enzyme defects. Despite its largely known role in acute and life-threatening haemolytic crises, G6PD deficiency may be also associated with neonatal jaundice that, when severe and untreated, may lead to the potential of bilirubin encephalopathy. A prolonged neonatal jaundice was found to be...
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