Nishi Y - Search Results

1

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, Tanaka Y, Takatori K, Kajiwara M, Yamano T. Okano Y, et al. Among authors: nishi y. Pediatr Res. 2004 Nov;56(5):714-9. doi: 10.1203/01.PDR.0000141520.06524.51. Epub 2004 Aug 19. Pediatr Res. 2004. PMID: 15319459 Clinical Trial.

2

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

Okano Y, Kudo S, Nishi Y, Sakaguchi T, Aso K. Okano Y, et al. Among authors: nishi y. J Hum Genet. 2011 Apr;56(4):306-12. doi: 10.1038/jhg.2011.10. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307867

3

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. Among authors: nishi y. Hum Genet. 1998 Nov;103(5):613-8. doi: 10.1007/s004390050877. Hum Genet. 1998. PMID: 9860305

4

Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.

Teragaki M, Tanaka A, Akioka K, Lan HT, Nishi Y, Yamano T, Yoshikawa J. Teragaki M, et al. Among authors: nishi y. Jpn Heart J. 2004 Jul;45(4):685-9. doi: 10.1536/jhj.45.685. Jpn Heart J. 2004. PMID: 15353880 Free article.

5

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Tanaka A, Hoang LT, Nishi Y, Maniwa S, Oka M, Yamano T. Tanaka A, et al. Among authors: nishi y. J Hum Genet. 2003;48(11):571-4. doi: 10.1007/s10038-003-0080-9. Epub 2003 Oct 18. J Hum Genet. 2003. PMID: 14566483

6

Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.

Kawakita R, Hosokawa Y, Fujimaru R, Tamagawa N, Urakami T, Takasawa K, Moriya K, Mizuno H, Maruo Y, Takuwa M, Nagasaka H, Nishi Y, Yamamoto Y, Aizu K, Yorifuji T. Kawakita R, et al. Among authors: nishi y. Diabet Med. 2014 Nov;31(11):1357-62. doi: 10.1111/dme.12487. Epub 2014 May 24. Diabet Med. 2014. PMID: 24804978

7

Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.

Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A. Ikeda Y, et al. Among authors: nishi y. J Lipid Res. 2001 Jul;42(7):1072-81. J Lipid Res. 2001. PMID: 11441134 Free article. Clinical Trial.

8

Isolation and purification of an axenic diazotrophic drought-tolerant cyanobacterium, Nostoc commune, from natural cyanobacterial crusts and its utilization for field research on soils polluted with radioisotopes.

Katoh H, Furukawa J, Tomita-Yokotani K, Nishi Y. Katoh H, et al. Among authors: nishi y. Biochim Biophys Acta. 2012 Aug;1817(8):1499-505. doi: 10.1016/j.bbabio.2012.02.039. Epub 2012 Mar 7. Biochim Biophys Acta. 2012. PMID: 22417797 Free article.

9

Stochastic marine ecosystem modeling for statistical interpretation of the uncertainty factors used for the determination of tolerable daily intake of polychlorinated biphenyls.

Arai R, Nishi Y. Arai R, et al. Among authors: nishi y. Environ Pollut. 2024 Dec 31;367:125626. doi: 10.1016/j.envpol.2024.125626. Online ahead of print. Environ Pollut. 2024. PMID: 39746634 Free article.

10

Novel Treatment of 3D-Printed Short-Carbon-Fiber-Reinforced Polyamide (3D-SCFRPA66) Using Homogeneous Low-Potential Electron Beam Irradiation (HLEBI) and Ductility Enhancement.

Miura E, Uchida HT, Okazaki T, Sagawa K, Faudree MC, Salvia M, Kimura H, Nishi Y. Miura E, et al. Among authors: nishi y. Polymers (Basel). 2024 Dec 3;16(23):3408. doi: 10.3390/polym16233408. Polymers (Basel). 2024. PMID: 39684152 Free PMC article.

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