Sakuraba H - Search Results

1

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al. Yoshida K, et al. Among authors: sakuraba h. Ann Neurol. 1992 Mar;31(3):328-32. doi: 10.1002/ana.410310316. Ann Neurol. 1992. PMID: 1353343

2

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Ishii S, Sakuraba H, Suzuki Y. Ishii S, et al. Among authors: sakuraba h. Hum Genet. 1992 Apr;89(1):29-32. doi: 10.1007/BF00207037. Hum Genet. 1992. PMID: 1315715

3

Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria.

Yoshida K, Yanagisawa N, Oshima A, Sakuraba H, Iida Y, Suzuki Y. Yoshida K, et al. Among authors: sakuraba h. Hum Genet. 1992 Sep-Oct;90(1-2):179-80. doi: 10.1007/BF00210771. Hum Genet. 1992. PMID: 1427775

4

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: sakuraba h. Clin Genet. 1992 May;41(5):235-8. doi: 10.1111/j.1399-0004.1992.tb03672.x. Clin Genet. 1992. PMID: 1606711

5

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: sakuraba h. Clin Genet. 1991 Mar;39(3):233-7. doi: 10.1111/j.1399-0004.1991.tb03018.x. Clin Genet. 1991. PMID: 1645238

6

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.

Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y. Ishii S, et al. Among authors: sakuraba h. Ann Neurol. 1991 May;29(5):560-4. doi: 10.1002/ana.410290517. Ann Neurol. 1991. PMID: 1650161

7

Characterization and purification of human beta-galactosidase overexpressed in recombinant baculovirus-infected Spodoptera frugiperda cells.

Itoh K, Oshima A, Sakuraba H, Suzuki Y. Itoh K, et al. Among authors: sakuraba h. J Inherit Metab Dis. 1991;14(5):813-8. doi: 10.1007/BF01799955. J Inherit Metab Dis. 1991. PMID: 1779628 No abstract available.

8

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: sakuraba h. Dev Neurosci. 1991;13(4-5):299-303. doi: 10.1159/000112201. Dev Neurosci. 1991. PMID: 1817034 Review.

9

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: sakuraba h. Am J Hum Genet. 1991 Aug;49(2):435-42. Am J Hum Genet. 1991. PMID: 1907800 Free PMC article.

10

Acid carboxypeptidase deficiency in galactosialidosis.

Itoh K, Takiyama N, Nagao Y, Oshima A, Sakuraba H, Potier M, Suzuki Y. Itoh K, et al. Among authors: sakuraba h. Jinrui Idengaku Zasshi. 1991 Jun;36(2):171-7. doi: 10.1007/BF01876581. Jinrui Idengaku Zasshi. 1991. PMID: 1920915

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