Current status of surviving patients with arginase 1 deficiency in Japan

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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Bibliographic Details
Main Authors: Jun Kido, Shirou Matsumoto, Eiko Takeshita, Chiemi Hayakawa, Keitaro Yamada, Jiro Kagawa, Yoko Nakajima, Tetsuya Ito, Hiroyuki Iijima, Fumio Endo, Kimitoshi Nakamura
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Arginase 1 deficiency
Cholestasis
Epilepsy
Hyperargininemia
Liver transplantation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000999

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http://www.sciencedirect.com/science/article/pii/S2214426921000999

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