Utsumi K - Search Results

1

Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

Shimmoto M, Kase R, Itoh K, Utsumi K, Ishii S, Taya C, Yonekawa H, Sakuraba H. Shimmoto M, et al. Among authors: utsumi k. FEBS Lett. 1997 Nov 3;417(1):89-91. doi: 10.1016/s0014-5793(97)01263-5. FEBS Lett. 1997. PMID: 9395081 Free article.

2

[Fabry disease (alpha-galactosidase deficiency)].

Utsumi K, Sakuraba H. Utsumi K, et al. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):367-71. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645084 Review. Japanese. No abstract available.

3

Urinary excretion of the vitronectin receptor (integrin alpha V beta 3) in patients with Fabry disease.

Utsumi K, Itoh K, Kase R, Shimmoto M, Yamamoto N, Katagiri Y, Tanoue K, Kotani M, Ozawa T, Oguchi T, Sakuraba H. Utsumi K, et al. Clin Chim Acta. 1999 Jan;279(1-2):55-68. doi: 10.1016/s0009-8981(98)00169-7. Clin Chim Acta. 1999. PMID: 10064118

4

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

Kase R, Bierfreund U, Klein A, Kolter T, Utsumi K, Itoha K, Sandhoff K, Sakuraba H. Kase R, et al. Among authors: utsumi k. Biochim Biophys Acta. 2000 Jun 15;1501(2-3):227-35. doi: 10.1016/s0925-4439(00)00024-7. Biochim Biophys Acta. 2000. PMID: 10838196 Free article.

5

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

Takata T, Okumiya T, Hayashibe H, Shimmoto M, Kase R, Itoh K, Utsumi K, Kamei S, Sakuraba H. Takata T, et al. Among authors: utsumi k. Brain Dev. 1997 Mar;19(2):111-6. doi: 10.1016/s0387-7604(96)00486-x. Brain Dev. 1997. PMID: 9105656 Clinical Trial.

6

High incidence of thrombosis in Fabry's disease.

Utsumi K, Yamamoto N, Kase R, Takata T, Okumiya T, Saito H, Suzuki T, Uyama E, Sakuraba H. Utsumi K, et al. Intern Med. 1997 May;36(5):327-9. doi: 10.2169/internalmedicine.36.327. Intern Med. 1997. PMID: 9213168 Free article.

7

Immunohistochemical characterization of transgenic mice highly expressing human lysosomal alpha-galactosidase.

Kase R, Shimmoto M, Itoh K, Utsumi K, Kotani M, Taya C, Yonekawa H, Sakuraba H. Kase R, et al. Among authors: utsumi k. Biochim Biophys Acta. 1998 Apr 28;1406(3):260-6. doi: 10.1016/s0925-4439(98)00012-x. Biochim Biophys Acta. 1998. PMID: 9630664 Free article.

8

GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient.

Sakuraba H, Itoh K, Shimmoto M, Utsumi K, Kase R, Hashimoto Y, Ozawa T, Ohwada Y, Imataka G, Eguchi M, Furukawa T, Schepers U, Sandhoff K. Sakuraba H, et al. Among authors: utsumi k. Neurology. 1999 Jan 15;52(2):372-7. doi: 10.1212/wnl.52.2.372. Neurology. 1999. PMID: 9932959

9

Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).

Itoh K, Shimmoto M, Utsumi K, Mizoguchi N, Miharu N, Ohama K, Sakuraba H. Itoh K, et al. Among authors: utsumi k. Biochem Biophys Res Commun. 1998 Jun 9;247(1):12-7. doi: 10.1006/bbrc.1998.8659. Biochem Biophys Res Commun. 1998. PMID: 9636645

10

Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments.

Utsumi K, Mitsuhashi F, Asahi K, Sakurazawa M, Arii K, Komaba Y, Katsumata T, Katsura K, Kase R, Katayama Y. Utsumi K, et al. Clin Chim Acta. 2005 Oct;360(1-2):103-7. doi: 10.1016/j.cccn.2005.04.036. Clin Chim Acta. 2005. PMID: 16112661

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