Okano Y - Search Results

1

Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.

Imamura T, Okano Y, Shintaku H, Hase Y, Isshiki G. Imamura T, et al. Among authors: okano y. J Hum Genet. 1999;44(3):163-8. doi: 10.1007/s100380050134. J Hum Genet. 1999. PMID: 10319579

2

Frequency and distribution of phenylketonuric mutations in Orientals.

Okano Y, Hase Y, Lee DH, Furuyama J, Shintaku H, Oura T, Isshiki G. Okano Y, et al. Hum Mutat. 1992;1(3):216-20. doi: 10.1002/humu.1380010307. Hum Mutat. 1992. PMID: 1301927

3

Molecular characterization of galactosemia (type 1) mutations in Japanese.

Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G. Ashino J, et al. Among authors: okano y. Hum Mutat. 1995;6(1):36-43. doi: 10.1002/humu.1380060108. Hum Mutat. 1995. PMID: 7550229

4

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.

Okano Y, Hase Y, Shintaku H, Araki K, Furuyama J, Oura T, Isshiki G. Okano Y, et al. Hum Mol Genet. 1994 Apr;3(4):659. doi: 10.1093/hmg/3.4.659. Hum Mol Genet. 1994. PMID: 7915167 No abstract available.

5

Molecular characterization of phenylketonuria in Japanese patients.

Okano Y, Asada M, Kang Y, Nishi Y, Hase Y, Oura T, Isshiki G. Okano Y, et al. Hum Genet. 1998 Nov;103(5):613-8. doi: 10.1007/s004390050877. Hum Genet. 1998. PMID: 9860305

6

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G. Asada M, et al. Among authors: okano y. J Hum Genet. 1999;44(6):377-82. doi: 10.1007/s100380050182. J Hum Genet. 1999. PMID: 10570908

7

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

Hirokawa H, Okano Y, Asada M, Fujimoto A, Suyama I, Isshiki G. Hirokawa H, et al. Among authors: okano y. Eur J Hum Genet. 1999 Oct-Nov;7(7):757-64. doi: 10.1038/sj.ejhg.5200368. Eur J Hum Genet. 1999. PMID: 10573007

8

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. Okano Y, et al. Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23. Am J Hum Genet. 2001. PMID: 11231902 Free PMC article.

9

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.

Fujioka H, Okano Y, Inada H, Asada M, Kawamura T, Hase Y, Yamano T. Fujioka H, et al. Among authors: okano y. Eur J Hum Genet. 2001 Dec;9(12):931-7. doi: 10.1038/sj.ejhg.5200749. Eur J Hum Genet. 2001. PMID: 11840195

10

Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.

Aso K, Okano Y, Takeda T, Sakamoto O, Ban K, Iida K, Yamano T, Shintaku H. Aso K, et al. Among authors: okano y. Osaka City Med J. 2011 Jun;57(1):1-9. Osaka City Med J. 2011. PMID: 22106762

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