Oka A - Search Results

1

New GAA mutations in Japanese patients with GSDII (Pompe disease).

Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K. Pipo JR, et al. Among authors: oka a. Pediatr Neurol. 2003 Oct;29(4):284-7. doi: 10.1016/s0887-8994(03)00267-4. Pediatr Neurol. 2003. PMID: 14643388

2

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K. Feng JH, et al. Among authors: oka a. Hum Mutat. 2004 Apr;23(4):397. doi: 10.1002/humu.9225. Hum Mutat. 2004. PMID: 15024740

3

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease.

Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y. Lin H, et al. Among authors: oka a. Biochim Biophys Acta. 2004 Aug 4;1689(3):219-28. doi: 10.1016/j.bbadis.2004.03.007. Biochim Biophys Acta. 2004. PMID: 15276648 Free article.

4

Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.

Toyoshima M, Oka A, Egi Y, Yamamoto T, Onozuka M, Nosaka K, Naito E, Yamada K. Toyoshima M, et al. Among authors: oka a. Pediatr Neurol. 2005 Aug;33(2):98-104. doi: 10.1016/j.pediatrneurol.2005.02.007. Pediatr Neurol. 2005. PMID: 16087053

5

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?

Saito Y, Toyoshima M, Oka A, Zhuo L, Moriwaki S, Yamamoto O, Kanzaki S, Hanaki K, Ninomiya H, Nanba E, Kondo A, Maegaki Y, Ohno K. Saito Y, et al. Among authors: oka a. Brain Dev. 2008 Mar;30(3):221-5. doi: 10.1016/j.braindev.2007.08.004. Epub 2007 Sep 17. Brain Dev. 2008. PMID: 17870267

6

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Shiroma N, Kanazawa N, Kato Z, Shimozawa N, Imamura A, Ito M, Ohtani K, Oka A, Wakabayashi K, Iai M, Sugai K, Sasaki M, Kaga M, Ohta T, Tsujino S. Shiroma N, et al. Among authors: oka a. Brain Dev. 2003 Mar;25(2):116-21. doi: 10.1016/s0387-7604(02)00167-5. Brain Dev. 2003. PMID: 12581808

7

[X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period].

Nanba Y, Oka A, Ohno K. Nanba Y, et al. Among authors: oka a. No To Hattatsu. 2007 May;39(3):206-9. No To Hattatsu. 2007. PMID: 17515135 Japanese.

8

[Photosensitivity in electroencephalogram of a child with 45, X/46, X, mar (X) Turner Syndrome].

Ueno M, Oka A, Akaboshi S, Ohno K. Ueno M, et al. Among authors: oka a. No To Hattatsu. 2003 May;35(3):249-52. No To Hattatsu. 2003. PMID: 12755057 Japanese.

9

[Severe diarrhea associated with X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a case report of successful treatment with the somatostatin analogue octreotide].

Nanba Y, Oka A, Ohno K. Nanba Y, et al. Among authors: oka a. No To Hattatsu. 2007 Sep;39(5):379-82. No To Hattatsu. 2007. PMID: 17879613 Japanese.

10

Behavioral and psychiatric disorders in Prader-Willi syndrome: a population study in Japan.

Hiraiwa R, Maegaki Y, Oka A, Ohno K. Hiraiwa R, et al. Among authors: oka a. Brain Dev. 2007 Oct;29(9):535-42. doi: 10.1016/j.braindev.2007.01.005. Epub 2007 Feb 20. Brain Dev. 2007. PMID: 17314021

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