Zobrazeno 1 - 2
of 2
pro vyhledávání: '"GAA, Guanidino acetate"'
Autor:
Kimitoshi Nakamura, Chiemi Hayasaka, Yoko Nakajima, Jun Kido, Shirou Matsumoto, Fumio Endo, Jiro Kagawa, Keitaro Yamada, Eiko Takeshita, Hiroyuki Iijima, Tetsuya Ito
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)
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 manifesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236b252d9d0acfaeacd3749ecb87ec23
http://europepmc.org/articles/PMC8495172
http://europepmc.org/articles/PMC8495172
Autor:
Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan., Matsumoto S; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan., Takeshita E; Department of Pediatrics, Yanagawa Institute for Developmental Disabilities, International University of Health and Welfare, Yanagawa City, Fukuoka, Japan., Hayasaka C; Haruhi Children's Clinic, Kounan City, Aichi, Japan., Yamada K; Department of Pediatric Neurology, Aichi Developmental Disability Center Central Hospital, Kasugai City, Aichi, Japan., Kagawa J; Department of Pediatrics, Fujieda Municipal General Hospital, Fujieda City, Shizuoka, Japan., Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake City, Aichi, Japan., Ito T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake City, Aichi, Japan., Iijima H; Department of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan., Endo F; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Oct 01; Vol. 29, pp. 100805. Date of Electronic Publication: 2021 Oct 01 (Print Publication: 2021).