Current status of surviving patients with arginase 1 deficiency in Japan

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifestations and sometimes present with severe hepatic di...

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Detalles Bibliográficos
Autores principales: Kido, Jun, Matsumoto, Shirou, Takeshita, Eiko, Hayasaka, Chiemi, Yamada, Keitaro, Kagawa, Jiro, Nakajima, Yoko, Ito, Tetsuya, Iijima, Hiroyuki, Endo, Fumio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495172/
https://www.ncbi.nlm.nih.gov/pubmed/34646736
http://dx.doi.org/10.1016/j.ymgmr.2021.100805

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