Shimozawa N - Search Results

1

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N. Shimozawa N, et al. Hum Mutat. 2004 Jun;23(6):552-8. doi: 10.1002/humu.20032. Hum Mutat. 2004. PMID: 15146459

2

Peroxisomal acyl CoA oxidase deficiency.

Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N. Suzuki Y, et al. Among authors: shimozawa n. J Pediatr. 2002 Jan;140(1):128-30. doi: 10.1067/mpd.2002.120511. J Pediatr. 2002. PMID: 11815777

3

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH. Raas-Rothschild A, et al. Among authors: shimozawa n. Am J Hum Genet. 2002 Apr;70(4):1062-8. doi: 10.1086/339766. Epub 2002 Feb 28. Am J Hum Genet. 2002. PMID: 11873320 Free PMC article.

4

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.

Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Fujiki Y, Wanders RJ, Kondo N. Shimozawa N, et al. Biochem Biophys Res Commun. 2002 Mar 22;292(1):109-12. doi: 10.1006/bbrc.2002.6642. Biochem Biophys Res Commun. 2002. PMID: 11890679

5

Changes of autonomic nervous system function in patients with breath-holding spells treated with iron.

Orii KE, Kato Z, Osamu F, Funato M, Kubodera U, Inoue R, Shimozawa N, Kondo N. Orii KE, et al. Among authors: shimozawa n. J Child Neurol. 2002 May;17(5):337-40. doi: 10.1177/088307380201700505. J Child Neurol. 2002. PMID: 12150579

6

Epidemiology of X-linked adrenoleukodystrophy in Japan.

Takemoto Y, Suzuki Y, Tamakoshi A, Onodera O, Tsuji S, Hashimoto T, Shimozawa N, Orii T, Kondo N. Takemoto Y, et al. Among authors: shimozawa n. J Hum Genet. 2002;47(11):590-3. doi: 10.1007/s100380200090. J Hum Genet. 2002. PMID: 12436195

7

Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N. Shimozawa N, et al. Am J Med Genet A. 2003 Jul 1;120A(1):40-3. doi: 10.1002/ajmg.a.20030. Am J Med Genet A. 2003. PMID: 12794690

8

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y. Matsumoto N, et al. Among authors: shimozawa n. Am J Hum Genet. 2003 Aug;73(2):233-46. doi: 10.1086/377004. Epub 2003 Jul 8. Am J Hum Genet. 2003. PMID: 12851857 Free PMC article.

9

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.

Takemoto Y, Suzuki Y, Horibe R, Shimozawa N, Wanders RJ, Kondo N. Takemoto Y, et al. Among authors: shimozawa n. Brain Dev. 2003 Oct;25(7):481-7. doi: 10.1016/s0387-7604(03)00033-0. Brain Dev. 2003. PMID: 13129591

10

Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.

Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Kondo N. Shimozawa N, et al. Adv Exp Med Biol. 2003;544:71. doi: 10.1007/978-1-4419-9072-3_10. Adv Exp Med Biol. 2003. PMID: 14713216 No abstract available.

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