Sylvia Hershckowitz

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The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene(More)
Nine premature infants developed early onset sepsis and/or pneumonia with Haemophilus influenzae during a period of 53 months (January 2000 -May 2004). Their respiratory problems were pneumonia-like rather than classic respiratory distress syndrome. In 8 of the cases, the pathogen was a beta-lactamase-negative, nontypable H. influenzae. In the remaining(More)
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