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

• Κύριοι συγγραφείς: Kenji Yamada (Συγγραφέας), Kazunori Yokoyama (Συγγραφέας), Kikumaro Aoki (Συγγραφέας), Takeshi Taketani (Συγγραφέας), Seiji Yamaguchi (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: MDPI AG, 2020-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

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...