Nihal Cayonu

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Isovaleric acidemia is a rare autosomal recessive inborn error of leucine metabolism. Two phenotypes with either an acute neonatal or a chronic intermittent presentation were described. The acute type is observed more frequently and is more fatal. We report the case of a girl in childhood who presented with hyperglycemia and metabolic acidosis with an(More)
OBJECTIVE To determine clinical features, etiology and risk factors in term and near term newborns with severe hyperbilirubinemia. METHODS During ten years period (2000 - 2009), infants of ≥ 35 gestational weeks who received phototherapy were evaluated retrospectively. The study population was divided into two groups and clinical features, etiology and(More)
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