Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome-Reference-Cited by-同舟云学术

Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Published:2021 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Hoshino Yumi¹,Kodaira Minori¹,Matsuno Atsuhiro¹,Kaneko Tomoki²,Fukuyama Tetsuhiro³,Takano Kyoko⁴,Yazaki Masahide⁵,Sekijima Yoshiki¹

Affiliation:

1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

2. Department of Radiology, Shinshu University School of Medicine, Japan

3. Department of Pediatrics, Shinshu University School of Medicine, Japan

4. Center for Medical Genetics, Shinshu University Hospital, Japan

5. Institute for Biomedical Sciences, Shinshu University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7843-21/_pdf

Reference22 articles.

1. 1. Camacho J, Rioseco-Camacho N. Hyperornithinemia-hyperammonemia-Homocitrullinuria syndrome. In: GeneReviews™ [Internet]. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Eds. University of Washington, Seattle, 2012: 1993-2021.

2. 2. Camacho JA, Obie C, Biery B, et al. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 22: 151-158, 1999.

3. 3. Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab 110: 179-180, 2013.

4. 4. Oyanagi K, Tsuchiyama A, Itakura Y, et al. The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. J Inherit Metab Dis 6: 133-134, 1983.

5. 5. Koike R, Fujimori K, Yuasa T, Miyatake T, Inoue I, Saheki T. Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. Neurology 37: 1813-1815, 1987.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Characteristics of an advanced epilepsy treatment gap in a region in Japan;Epilepsy & Behavior Reports;2023