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

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

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...

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Bibliographic Details
Main Authors: Kenji Yamada, Kazunori Yokoyama, Kikumaro Aoki, Takeshi Taketani, Seiji Yamaguchi
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:International Journal of Neonatal Screening
Subjects:
homocystinuria
cystathionine β-synthase deficiency
newborn screening
long-term outcome
social outcome
vitamin B<sub>6</sub>
Online Access:https://www.mdpi.com/2409-515X/6/3/60

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