- Original Article
- Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
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Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee
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Clin Exp Pediatr. 2010;53(3):329-334. Published online March 15, 2010
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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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