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...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamada, Kenji, Yokoyama, Kazunori, Aoki, Kikumaro, Taketani, Takeshi, Yamaguchi, Seiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569964/
https://www.ncbi.nlm.nih.gov/pubmed/33239586
http://dx.doi.org/10.3390/ijns6030060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569964/
https://www.ncbi.nlm.nih.gov/pubmed/33239586
http://dx.doi.org/10.3390/ijns6030060

Ejemplares similares