Current status of surviving patients with arginase 1 deficiency in Japan

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)

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

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Autor: Chilosi, Annamaria¹, Casarano, Manuela^1,2, Comparini, Alessandro¹, Maria Battaglia, Francesca³, Maria Mancardi, Margherita³, Schiaffino, Cristina⁴, Tosetti, Michela¹, Leuzzi, Vincenzo⁵, Battini, Roberta¹ rbattini@inpe.unipi.it, Cioni, Giovanni^1,2

Publikováno v: Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p43-51. 9p. 1 Chart, 3 Graphs.

Current status of surviving patients with arginase 1 deficiency in Japan.

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).

A longitudinal systems biology analysis of lactulose withdrawal in hepatic encephalopathy.

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