Fukuhara Y - Search Results

1

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y. Sakuraba H, et al. Among authors: fukuhara y. Am J Hum Genet. 1990 Nov;47(5):784-9. Am J Hum Genet. 1990. PMID: 2171331 Free PMC article.

2

GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.

Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y. Oshima A, et al. Among authors: fukuhara y. Clin Genet. 1992 May;41(5):235-8. doi: 10.1111/j.1399-0004.1992.tb03672.x. Clin Genet. 1992. PMID: 1606711

3

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.

Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y. Nagao Y, et al. Among authors: fukuhara y. Clin Genet. 1991 Mar;39(3):233-7. doi: 10.1111/j.1399-0004.1991.tb03018.x. Clin Genet. 1991. PMID: 1645238

4

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.

Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y. Suzuki Y, et al. Among authors: fukuhara y. Dev Neurosci. 1991;13(4-5):299-303. doi: 10.1159/000112201. Dev Neurosci. 1991. PMID: 1817034 Review.

5

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y. Yoshida K, et al. Among authors: fukuhara y. Am J Hum Genet. 1991 Aug;49(2):435-42. Am J Hum Genet. 1991. PMID: 1907800 Free PMC article.

6

Human beta-galactosidase gene mutations in morquio B disease.

Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y. Oshima A, et al. Among authors: fukuhara y. Am J Hum Genet. 1991 Nov;49(5):1091-3. Am J Hum Genet. 1991. PMID: 1928092 Free PMC article.

7

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.

Fukuhara Y, Sakuraba H, Oshima A, Shimmoto M, Nagao Y, Nadaoka Y, Suzuki T, Suzuki Y. Fukuhara Y, et al. Biochem Biophys Res Commun. 1990 Jul 16;170(1):296-300. doi: 10.1016/0006-291x(90)91273-u. Biochem Biophys Res Commun. 1990. PMID: 2164807

8

Protective protein gene mutations in galactosialidosis.

Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y. Shimmoto M, et al. Among authors: fukuhara y. J Clin Invest. 1993 Jun;91(6):2393-8. doi: 10.1172/JCI116472. J Clin Invest. 1993. PMID: 8514852 Free PMC article.

9

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T. Fukuhara Y, et al. Mol Genet Metab Rep. 2020 Dec 10;25:100692. doi: 10.1016/j.ymgmr.2020.100692. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335838 Free PMC article.

10

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Fukuhara Y, Fuji N, Yamazaki N, Hirakiyama A, Kamioka T, Seo JH, Mashima R, Kosuga M, Okuyama T. Fukuhara Y, et al. Mol Genet Metab Rep. 2017 Oct 31;14:3-9. doi: 10.1016/j.ymgmr.2017.10.009. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29124014 Free PMC article.

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