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

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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Bibliographic Details
Main Authors: Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Developmental disability
Intellectual disability
Physical manifestation
Urea cycle disorders
Social support
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000185

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http://www.sciencedirect.com/science/article/pii/S2214426921000185

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