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1. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
2. 尿素サイクル障害：管理 urea cycle disorders management
3. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
4. 遺伝性運動失調の概要 overview of the hereditary ataxias
5. 小児における急性発症性精神病の救急外来による評価 emergency department evaluation of acute onset psychosis in children

English Journal

Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency.

Paine SM, Grünewald S, Jacques TS.SourceDepartments of Histopathology Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust Neural Development Unit, UCL Institute of Child Health, London, UK.
Neuropathology and applied neurobiology.Neuropathol Appl Neurobiol.2012 Aug;38(5):509-12. doi: 10.1111/j.1365-2990.2012.01262.x.
PMID 22360542

Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders.

Alexander IE, Kok C, Dane AP, Cunningham SC.SourceGene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia, ian.alexander@health.nsw.gov.au.
Journal of inherited metabolic disease.J Inherit Metab Dis.2012 Jul;35(4):641-5. Epub 2012 Mar 9.
Many metabolic diseases are compelling candidates for gene therapy, and are the subject of vigorous pre-clinical research. Successful phenotype correction in mouse models is now commonplace and research effort is increasingly being directed towards addressing the translational challenges inherent in
PMID 22403018

Japanese Journal

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Journal of human genetics 60(9), 501-507, 2015-09
NAID 40020589496

小児肝細胞移植の現況と展望

移植 50(6), 605-612, 2015
NAID 130005114878

19歳で発症したornithine transcarbamylase（OTC）欠損症により急性脳浮腫を来した1例

日本救急医学会雑誌 25(11), 833-838, 2014
NAID 130004840990

Related Pictures

the enzyme ornithine transcarbamylase .. Aspartate transcarbamylase. Examen ; Ornithine Transcarbamylase ; OTC = ornithine transcarbamylase Ornithine Transcarbamylase Deficiency to Ornithine Transcarbamylase Deficiency shift the equilibrium to the T state Ligand-induced conformational change