Fukao T - Search Results

1

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: fukao 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

2

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T. Kuwahara T, et al. Among authors: fukao t. Hum Genet. 1992 Nov;90(3):208-10. doi: 10.1007/BF00220063. Hum Genet. 1992. PMID: 1362557

3

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.

Song XQ, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T. Song XQ, et al. Among authors: fukao t. Hum Mol Genet. 1995 Jun;4(6):1093-4. doi: 10.1093/hmg/4.6.1093. Hum Mol Genet. 1995. PMID: 7655465 No abstract available.

4

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

Fukao T, Yamaguchi S, Orii T, Hashimoto T. Fukao T, et al. Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203. Hum Mutat. 1995. PMID: 7749408 Review.

5

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.

Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T. Fukao T, et al. Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9090533 No abstract available.

6

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Isogai K, Sukegawa K, Tomatsu S, Fukao T, Song XQ, Yamada Y, Fukuda S, Orii T, Kondo N. Isogai K, et al. Among authors: fukao t. J Inherit Metab Dis. 1998 Feb;21(1):60-70. doi: 10.1023/a:1005363414792. J Inherit Metab Dis. 1998. PMID: 9501270

7

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.

Watanabe H, Orii KE, Fukao T, Song XQ, Aoyama T, IJlst L, Ruiter J, Wanders RJ, Kondo N. Watanabe H, et al. Among authors: fukao t. Hum Mutat. 2000;15(5):430-8. doi: 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1. Hum Mutat. 2000. PMID: 10790204

8

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.

Fukao T, Scriver CR, Kondo N; t2 Collaborative Working Group. Fukao T, et al. Mol Genet Metab. 2001 Feb;72(2):109-14. doi: 10.1006/mgme.2000.3113. Mol Genet Metab. 2001. PMID: 11161836

9

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S. Purevjav E, et al. Among authors: fukao t. Eur J Clin Invest. 2002 Sep;32(9):707-12. doi: 10.1046/j.1365-2362.2002.01045.x. Eur J Clin Invest. 2002. PMID: 12486872

10

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.

Kato T, Kato Z, Kuratsubo I, Tanaka N, Ishigami T, Kajihara JI, Sukegawa-Hayasaka K, Orii K, Isogai K, Fukao T, Shimozawa N, Orii T, Kondo N, Suzuki Y. Kato T, et al. Among authors: fukao t. J Hum Genet. 2005;50(8):395-402. doi: 10.1007/s10038-005-0266-4. Epub 2005 Aug 30. J Hum Genet. 2005. PMID: 16133661

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