Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eva Budman"'
Autor:
Dinesh S. Bangari, Amy Allaire, John P. Leonard, Jennifer B. Nietupski, Hyejung Park, John Marshall, Bing Wang, Gregory A. Grabowski, Eva Budman, Ying Sun, Seng H. Cheng, Mary A Cromwell
Publikováno v:
Molecular Therapy
Gaucher disease (GD) is caused by a deficiency of glucocerebrosidase and the consequent lysosomal accumulation of unmetabolized glycolipid substrates. Enzyme-replacement therapy adequately manages the visceral manifestations of nonneuronopathic type-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239d8c0b03aa3c93c7d64884d5015407
https://doi.org/10.1038/mt.2016.53
https://doi.org/10.1038/mt.2016.53
Autor:
Eva Budman, Dinesh S. Bangari, Peter A. Piepenhagen, Seng H. Cheng, Karen M. Ashe, Robert J. Desnick, John P. Leonard, John Lydon, Colleen Maloney, John Marshall, Beth L. Thurberg
Publikováno v:
The American Journal of Pathology. 185:651-665
Fabry disease is an X-linked lysosomal storage disease caused by deficient activity of α-galactosidase A and the resultant systemic accumulation of globotrioasylceramide (GL-3) and related glycolipids. α-Galactosidase A gene knockout (Gla KO) mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fcf2dc3610fad5999226b65e80b1a290
https://doi.org/10.1016/j.ajpath.2014.11.004
https://doi.org/10.1016/j.ajpath.2014.11.004
Autor:
Dinesh S. Bangari, Craig Siegel, John Marshall, Seng H. Cheng, Bing Wang, Eva Budman, Jennifer B. Nietupski, Ronald K. Scheule, Karen M. Ashe, Robert J. Desnick, John P. Leonard
Publikováno v:
Molecular medicine (Cambridge, Mass.). 21
Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36edf3546e39e3cea5bc89bd1abb2843
https://pubmed.ncbi.nlm.nih.gov/25938659
https://pubmed.ncbi.nlm.nih.gov/25938659
Autor:
Dinesh S, Bangari, Karen M, Ashe, Robert J, Desnick, Colleen, Maloney, John, Lydon, Peter, Piepenhagen, Eva, Budman, John P, Leonard, Seng H, Cheng, John, Marshall, Beth L, Thurberg
Publikováno v:
The American journal of pathology. 185(3)
Fabry disease is an X-linked lysosomal storage disease caused by deficient activity of α-galactosidase A and the resultant systemic accumulation of globotrioasylceramide (GL-3) and related glycolipids. α-Galactosidase A gene knockout (Gla KO) mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e406686182db16ea56de4b6cde70c5ee
https://pubmed.ncbi.nlm.nih.gov/25553976
https://pubmed.ncbi.nlm.nih.gov/25553976
Autor:
Ying Sun, Seng H. Cheng, John Marshall, Bing Wang, Eva Budman, Dinesh S. Bangari, John P. Leonard
Publikováno v:
Molecular Genetics and Metabolism. 114:S77-S78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d13103105723afc1a2524998b4e8b456
https://doi.org/10.1016/j.ymgme.2014.12.169
https://doi.org/10.1016/j.ymgme.2014.12.169
Autor:
Karen M. Ashe, Robert J. Desnick, John P. Leonard, Ronald K. Scheule, Eva Budman, Seng H. Cheng, Dinesh S. Bangari, Jennifer B. Nietupski, John Marshall
Publikováno v:
Molecular Genetics and Metabolism. 108:S20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a1d2a6ec3a4df72b2b8c67cd8c7f71a
https://doi.org/10.1016/j.ymgme.2012.11.026
https://doi.org/10.1016/j.ymgme.2012.11.026