Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

• Главные авторы: Kenji Yamada (Автор), Kazunori Yokoyama (Автор), Kikumaro Aoki (Автор), Takeshi Taketani (Автор), Seiji Yamaguchi (Автор)
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• Опубликовано: MDPI AG, 2020-07-01T00:00:00Z.
• Предметы: article
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Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977. We compared the outcomes between patients detected by NBS (NBS group) and clinically detected patients (non-NBS group). Metho...