Sakamoto O - Search Results

1

Reversible brain atrophy in glutaric aciduria type 1.

Numata-Uematsu Y, Sakamoto O, Kakisaka Y, Okubo Y, Oikawa Y, Arai-Ichinoi N, Kure S, Uematsu M. Numata-Uematsu Y, et al. Among authors: sakamoto o. Brain Dev. 2017 Jun;39(6):532-535. doi: 10.1016/j.braindev.2017.01.003. Epub 2017 Jan 29. Brain Dev. 2017. PMID: 28143689

2

Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake.

Nakayama T, Tanaka S, Uematsu M, Kikuchi A, Hino-Fukuyo N, Morimoto T, Sakamoto O, Tsuchiya S, Kure S. Nakayama T, et al. Among authors: sakamoto o. Brain Dev. 2014 Feb;36(2):143-7. doi: 10.1016/j.braindev.2013.02.001. Epub 2013 Feb 26. Brain Dev. 2014. PMID: 23452913

3

Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.

Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S. Sato H, et al. Among authors: sakamoto o. Brain Dev. 2014 Mar;36(3):268-71. doi: 10.1016/j.braindev.2013.04.003. Epub 2013 May 6. Brain Dev. 2014. PMID: 23660475

4

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S. Sakamoto O, et al. Tohoku J Exp Med. 2015 Jun;236(2):103-6. doi: 10.1620/tjem.236.103. Tohoku J Exp Med. 2015. PMID: 26018748 Free article.

5

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.

Arai-Ichinoi N, Kikuchi A, Wada Y, Sakamoto O, Kure S. Arai-Ichinoi N, et al. Among authors: sakamoto o. J Inherit Metab Dis. 2021 Jul;44(4):838-846. doi: 10.1002/jimd.12390. Epub 2021 Apr 22. J Inherit Metab Dis. 2021. PMID: 33861477

6

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S. Sakamoto O, et al. Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x. Pediatr Int. 2011. PMID: 21639866

7

Successful control of maternal phenylketonuria by tetrahydrobiopterin.

Sakamoto O, Arai-Ichinoi N, Murayama K, Kure S. Sakamoto O, et al. Pediatr Int. 2018 Oct;60(10):985-986. doi: 10.1111/ped.13678. Pediatr Int. 2018. PMID: 30345699 No abstract available.

8

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Kikuchi A, et al. Among authors: sakamoto o. Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22277121

9

Hypoketotic hypoglycemia in citrin deficiency: a case report.

Wada Y, Arai-Ichinoi N, Kikuchi A, Sakamoto O, Kure S. Wada Y, et al. Among authors: sakamoto o. BMC Pediatr. 2020 Sep 22;20(1):444. doi: 10.1186/s12887-020-02349-6. BMC Pediatr. 2020. PMID: 32962675 Free PMC article.

10

Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy.

Komatsuzaki S, Sakamoto O, Fuse N, Uematsu M, Matsubara Y, Ohura T. Komatsuzaki S, et al. Among authors: sakamoto o. Neurology. 2012 Aug 14;79(7):e63-8. doi: 10.1212/WNL.0b013e3182648bb6. Neurology. 2012. PMID: 22891116 No abstract available.

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