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Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status of UCD patients in Japan regarding diagnosis, t...

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Detalles Bibliográficos
Autores principales: Kido, Jun, Matsumoto, Shirou, Ito, Tetsuya, Hirose, Shinichi, Fukui, Kaori, Kojima-Ishii, Kanako, Mushimoto, Yuichi, Yoshida, Shinobu, Ishige, Mika, Sakai, Norio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876628/
https://www.ncbi.nlm.nih.gov/pubmed/33614409
http://dx.doi.org/10.1016/j.ymgmr.2021.100724