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

• Glavni autori: Kenji Yamada (Autor), Kazunori Yokoyama (Autor), Kikumaro Aoki (Autor), Takeshi Taketani (Autor), Seiji Yamaguchi (Autor)
• Format: Knjiga
• Izdano: MDPI AG, 2020-07-01T00:00:00Z.
• Teme: article
• Online pristup: 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...