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Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
Saito S, Ohno K, Sakuraba H. Saito S, et al. Among authors: sakuraba h. J Hum Genet. 2011 Jun;56(6):467-8. doi: 10.1038/jhg.2011.31. Epub 2011 Mar 17. J Hum Genet. 2011. PMID: 21412250
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Sakuraba H, et al. Genomics. 1992 Apr;12(4):643-50. doi: 10.1016/0888-7543(92)90288-4. Genomics. 1992. PMID: 1315304
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
Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.
Inaoki M, Otsuki N, Ishise S, Ueda Y, Sakuraba H. Inaoki M, et al. Among authors: sakuraba h. J Dermatol. 1992 Aug;19(8):481-6. doi: 10.1111/j.1346-8138.1992.tb03266.x. J Dermatol. 1992. PMID: 1328341
The alpha-galactosidase A activity in cultured lymphoblasts was deficient (0.5 nmol/h/mg protein). Electron microscopic examination of the skin revealed lamellar cytoplasmic inclusions in the endothelial cells, pericytes, and fibroblasts. ...
The alpha-galactosidase A activity in cultured lymphoblasts was deficient (0.5 nmol/h/mg protein). Electron microscopic examination o …
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
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
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
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
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
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.
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