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H Sakuraba

Showing results (101-110 of 128) with videos related to

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American Journal of Human Genetics|November 1, 1990
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseH Sakuraba, A Oshima, Y Fukuhara, et al.
Journal of Biochemistry|May 1, 1994
Lysosomal enzyme replacement using alpha 2-macroglobulin as a transport vehicleA Tsuji, R Oda, K Sakiyama, 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.
Clinical Genetics|March 1, 1991
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase AY Nagao, H Nakashima, Y Fukuhara, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Late onset variants in Fabry disease: Results in high risk population screenings in ArgentinaG Serebrinsky, M Calvo, S Fernandez, et al.
FEBS Letters|September 9, 1996
Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal systemR Kase, U Bierfreund, A Klein, et al.
Clinical Genetics|August 1, 1995
Clinical and molecular analysis of a Japanese boy with Morquio B diseaseN Ishii, T Oohira, A Oshima, et al.
Brain & Development|September 1, 1996
Three-dimensional brain visualization for metachromatic leukodystrophyR Minamikawa-Tachino, Y Maeda, I Fujishiro, et al.
Nature Cell Biology|November 13, 1999
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transportT Kobayashi, M H Beuchat, M Lindsay, et al.
The Journal of Clinical Investigation|April 1, 1989
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneH S Bernstein, D F Bishop, K H Astrin, et al.
Pageof 13

Showing results (101-110 of 128) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|November 1, 1990
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseH Sakuraba, A Oshima, Y Fukuhara, et al.
Journal of Biochemistry|May 1, 1994
Lysosomal enzyme replacement using alpha 2-macroglobulin as a transport vehicleA Tsuji, R Oda, K Sakiyama, 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.
Clinical Genetics|March 1, 1991
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase AY Nagao, H Nakashima, Y Fukuhara, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Late onset variants in Fabry disease: Results in high risk population screenings in ArgentinaG Serebrinsky, M Calvo, S Fernandez, et al.
FEBS Letters|September 9, 1996
Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal systemR Kase, U Bierfreund, A Klein, et al.
Clinical Genetics|August 1, 1995
Clinical and molecular analysis of a Japanese boy with Morquio B diseaseN Ishii, T Oohira, A Oshima, et al.
Brain & Development|September 1, 1996
Three-dimensional brain visualization for metachromatic leukodystrophyR Minamikawa-Tachino, Y Maeda, I Fujishiro, et al.
Nature Cell Biology|November 13, 1999
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transportT Kobayashi, M H Beuchat, M Lindsay, et al.
The Journal of Clinical Investigation|April 1, 1989
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneH S Bernstein, D F Bishop, K H Astrin, et al.
Pageof 13