Kyoung-Ah Kwon

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X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on(More)
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation(More)
Purpose: Little research has been conducted on adverse drug reactions in neonates, particularly in Korea, where no studies have been reported. Methods: We conducted a retrospectively study using medical records in a neonatal intensive care unit from August 1, 2013 to July 31, 2014. The adverse drug reactions were evaluated according to the Naranjo(More)
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