Okuyama T - Search Results

1

Guide for diagnosis and treatment of hyperphenylalaninemia.

Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Among authors: okuyama t. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362

2

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: okuyama t. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

3

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJ, Okumiya T. Kumamoto S, et al. Among authors: okuyama t. Mol Genet Metab. 2009 Jul;97(3):190-5. doi: 10.1016/j.ymgme.2009.03.004. Epub 2009 Mar 18. Mol Genet Metab. 2009. PMID: 19362502

4

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. Okuyama T, et al. Mol Genet Metab. 2010 Jan;99(1):18-25. doi: 10.1016/j.ymgme.2009.08.006. Mol Genet Metab. 2010. PMID: 19773189 Clinical Trial.

5

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Shigeto S, et al. Among authors: okuyama t. Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22. Mol Genet Metab. 2011. PMID: 21320792

6

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S. Tanaka A, et al. Among authors: okuyama t. Mol Genet Metab. 2012 Nov;107(3):513-20. doi: 10.1016/j.ymgme.2012.09.004. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23022072

7

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: okuyama t. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117

8

P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years.

Kobayashi H, Ariga M, Sato Y, Fujiwara M, Fukasawa N, Fukuda T, Takahashi H, Ikegami M, Kosuga M, Okuyama T, Eto Y, Ida H. Kobayashi H, et al. Among authors: okuyama t. JIMD Rep. 2018;41:101-107. doi: 10.1007/8904_2018_106. Epub 2018 Apr 29. JIMD Rep. 2018. PMID: 29705972 Free PMC article.

9

Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system.

Sakurai K, Ohashi T, Shimozawa N, Joo-Hyun S, Okuyama T, Ida H. Sakurai K, et al. Among authors: okuyama t. Brain Dev. 2019 Jan;41(1):50-56. doi: 10.1016/j.braindev.2018.07.007. Epub 2018 Aug 1. Brain Dev. 2019. PMID: 30077509

10

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.

Seo JH, Kosuga M, Hamazaki T, Shintaku H, Okuyama T. Seo JH, et al. Among authors: okuyama t. Mol Ther Methods Clin Dev. 2021 Feb 27;21:67-75. doi: 10.1016/j.omtm.2021.02.018. eCollection 2021 Jun 11. Mol Ther Methods Clin Dev. 2021. PMID: 33768130 Free PMC article.

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