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Original Article

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years

Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee

Clin Exp Pediatr. 2010;53(3):329-334. Published online March 15, 2010

Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal...

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