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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: suzuki y. Hum Genet. 1992 Apr;89(1):29-32. doi: 10.1007/BF00207037. Hum Genet. 1992. PMID: 1315715
Subclinical Fabry's disease occurring in the context of IgA nephropathy.
Kawamura O, Sakuraba H, Itoh K, Suzuki Y, Doi M, Kuwabara H, Oshima S, Abe S, Warabi H, Yoshizawa N. Kawamura O, et al. Among authors: suzuki y. Clin Nephrol. 1997 Feb;47(2):71-5. Clin Nephrol. 1997. PMID: 9049452
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y. Okumiya T, et al. Among authors: suzuki y. Hum Genet. 1995 May;95(5):557-61. doi: 10.1007/BF00223869. Hum Genet. 1995. PMID: 7759078
Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes.
Sakuraba H, Yanagawa Y, Igarashi T, Suzuki Y, Suzuki T, Watanabe K, Ieki K, Shimoda K, Yamanaka T. Sakuraba H, et al. Among authors: suzuki y, suzuki t. Clin Genet. 1986 Apr;29(4):276-83. Clin Genet. 1986. PMID: 3087663
[Fabry's disease].
Sakuraba H, Suzuki Y. Sakuraba H, et al. Among authors: suzuki y. Nihon Rinsho. 1986 Jul;44(7):1619-23. Nihon Rinsho. 1986. PMID: 3020276 Japanese. No abstract available.
Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.
Takiyama N, Itoh K, Shimmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y. Takiyama N, et al. Among authors: suzuki y. Brain Dev. 1997 Mar;19(2):126-30. doi: 10.1016/s0387-7604(96)00494-9. Brain Dev. 1997. PMID: 9105659 Clinical Trial.
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
Ishii N, Oshima A, Sakuraba H, Fukuyama Y, Suzuki Y. Ishii N, et al. Among authors: suzuki y. Pediatr Neurol. 1994 Jun;10(4):317-9. doi: 10.1016/0887-8994(94)90129-5. Pediatr Neurol. 1994. PMID: 8068159
GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts.
Nanba E, Tsuji A, Omura K, Suzuki Y. Nanba E, et al. Among authors: suzuki y. Biochem Biophys Res Commun. 1988 Apr 29;152(2):794-800. doi: 10.1016/s0006-291x(88)80108-6. Biochem Biophys Res Commun. 1988. PMID: 3130055
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.
Suzuki Y, Nakamura N, Fukuoka K, Shimada Y, Uono M. Suzuki Y, et al. Hum Genet. 1977 Apr 15;36(2):219-29. doi: 10.1007/BF00273261. Hum Genet. 1977. PMID: 404231
Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. Nishio H, et al. Among authors: suzuki y. J Clin Invest. 1994 Sep;94(3):1037-42. doi: 10.1172/JCI117417. J Clin Invest. 1994. PMID: 8083345 Free PMC article.
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