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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 disease
H Sakuraba, A Oshima, Y Fukuhara, et al.
Journal of Biochemistry
|
May 1, 1994
Lysosomal enzyme replacement using alpha 2-macroglobulin as a transport vehicle
A 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 analysis
T 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 A
Y 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 Argentina
G 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 system
R Kase, U Bierfreund, A Klein, et al.
Clinical Genetics
|
August 1, 1995
Clinical and molecular analysis of a Japanese boy with Morquio B disease
N Ishii, T Oohira, A Oshima, et al.
Brain & Development
|
September 1, 1996
Three-dimensional brain visualization for metachromatic leukodystrophy
R Minamikawa-Tachino, Y Maeda, I Fujishiro, et al.
Nature Cell Biology
|
November 13, 1999
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport
T 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 gene
H S Bernstein, D F Bishop, K H Astrin, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 128) with videos related to
Sort By:
Page
of 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 disease
H Sakuraba, A Oshima, Y Fukuhara, et al.
Journal of Biochemistry
|
May 1, 1994
Lysosomal enzyme replacement using alpha 2-macroglobulin as a transport vehicle
A 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 analysis
T 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 A
Y 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 Argentina
G 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 system
R Kase, U Bierfreund, A Klein, et al.
Clinical Genetics
|
August 1, 1995
Clinical and molecular analysis of a Japanese boy with Morquio B disease
N Ishii, T Oohira, A Oshima, et al.
Brain & Development
|
September 1, 1996
Three-dimensional brain visualization for metachromatic leukodystrophy
R Minamikawa-Tachino, Y Maeda, I Fujishiro, et al.
Nature Cell Biology
|
November 13, 1999
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport
T 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 gene
H S Bernstein, D F Bishop, K H Astrin, et al.
Page
of 13