Sakamoto O - Search Results

1

Sakamoto O, Ohura T. Sakamoto O, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):668-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462623 Review. Japanese. No abstract available.

2

Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K. Sakamoto O, et al. Pediatr Res. 2000 Nov;48(5):586-9. doi: 10.1203/00006450-200011000-00005. Pediatr Res. 2000. PMID: 11044475

3

[Fructose-1,6-bisphosphatase deficiency].

Sakamoto O, Ohura T. Sakamoto O, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):726-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462656 Review. Japanese. No abstract available.

4

[Gyrate atrophy of the choroid and retina].

Ohura T, Sakamoto O. Ohura T, et al. Among authors: sakamoto o. Ryoikibetsu Shokogun Shirizu. 2001;(33):773-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462679 Review. Japanese. No abstract available.

5

[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

Ohura T, Sakamoto O. Ohura T, et al. Among authors: sakamoto o. Ryoikibetsu Shokogun Shirizu. 2001;(33):835-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462710 Review. Japanese. No abstract available.

6

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K. Sakamoto O, et al. J Hum Genet. 2002;47(5):229-31. doi: 10.1007/s100380200030. J Hum Genet. 2002. PMID: 12032589

7

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: sakamoto o. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

8

A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.

Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K. Sakamoto O, et al. Hum Genet. 2001 Nov;109(5):559-63. doi: 10.1007/s00439-001-0612-3. Epub 2001 Oct 13. Hum Genet. 2001. PMID: 11735032

9

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Among authors: sakamoto o. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131

10

The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study.

Munakata M, Sakamoto O, Kitamura T, Ishitobi M, Yokoyama H, Haginoya K, Togashi N, Tamura H, Higano S, Takahashi S, Ohura T, Kobayashi Y, Onuma A, Iinuma K. Munakata M, et al. Among authors: sakamoto o. Brain Dev. 2005 Jun;27(4):297-300. doi: 10.1016/j.braindev.2004.08.002. Brain Dev. 2005. PMID: 15862194

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