Showing results (1-10 of 137) with videos related to
Sort By:
Pageof 14
Nihon Rinsho. Japanese Journal of Clinical Medicine|December 1, 1995
[Fabry disease (alpha-galactosidase deficiency)]T Okumiya, H SakurabaRinsho Byori. the Japanese Journal of Clinical Pathology|February 1, 1997
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)]T Okumiya, T Takata, M Sasaki, et al.Biochemical and Biophysical Research Communications|March 27, 1996
Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulumS Ishii, R Kase, T Okumiya, et al.The Japanese Journal of Human Genetics|September 1, 1996
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry diseaseT Okumiya, T Takenaka, S Ishii, et al.Human Genetics|May 1, 1995
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteinsT Okumiya, S Ishii, R Kase, et al.Biochemical and Biophysical Research Communications|September 25, 1995
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry diseaseT Okumiya, S Ishii, T Takenaka, et al.Internal Medicine (Tokyo, Japan)|May 1, 1997
High incidence of thrombosis in Fabry's diseaseK Utsumi, N Yamamoto, R Kase, et al.Brain & Development|March 1, 1997
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysisT Takata, T Okumiya, H Hayashibe, et al.Glycoconjugate Journal|January 9, 1999
Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissuesS Ishii, R Kase, H Sakuraba, et al.Rinsho Byori. the Japanese Journal of Clinical Pathology|June 1, 1994
[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]H SakurabaPageof 14