Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Nedd, Khan"'
Autor:
Feldt-Rasmussen, Ulla, Hughes, Derralynn, Sunder-Plassmann, Gere, Shankar, Suma, Nedd, Khan, Olivotto, Iacopo, Ortiz, Damara, Ohashi, Toya, Hamazaki, Takashi, Skuban, Nina, Yu, Julie, Barth, Jay A., Nicholls, Kathleen
Publikováno v:
In Molecular Genetics and Metabolism September-October 2020 131(1-2):219-228
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Case, Laura E., Bjartmar, Carl, Morgan, Claire, Casey, Robin, Charrow, Joel, Clancy, John P., Dasouki, Majed, DeArmey, Stephanie, Nedd, Khan, Nevins, Mary, Peters, Heidi, Phillips, Dawn, Spigelman, Zachary, Tifft, Cynthia, Kishnani, Priya S. *
Publikováno v:
In Neuromuscular Disorders April 2015 25(4):321-332
Autor:
Wallace, Eric, Goker-Alpan, Ozlem, Wilcox, William R, Holida, Myrl, Bernat, John, Longo, Nicola, Linhart, Aleš, Hughes, Derralynn A., Hopkin, Robert, Tøndel, Camilla, Langeveld, Mirjam, Giraldo, Pilar, Pisani, Antonio, Germain, Dominique P., Mehta, Ankit, Deegan, Patrick, Molnar, Maria Judith, Ortiz, Damara, Jovanovic, Ana, Muriello, Michael, Barshop, Bruce, Kimonis, Virginia, Vujkovac, Bojan, Nowak, Albina, Geberhiwot, Tarekegn, Kantola, Ilkka, Knoll, Jasmine, Waldek, Stephen, Nedd, Khan, Karaa, Amel, Brill-Almon, Einat, Alon, Sari, Chertkoff, Raul, Rocco, Rossana, Sakov, Anat, Warnock, David G
Externí odkaz:
https://hdl.handle.net/11250/3143970
Autor:
Wallace, Eric L, Goker-Alpan, Ozlem, Wilcox, William R, Holida, Myrl, Bernat, John, Longo, Nicola, Linhart, Aleš, Hughes, Derralynn A, Hopkin, Robert J, Tøndel, Camilla, Langeveld, Mirjam, Giraldo, Pilar, Pisani, Antonio, Germain, Dominique Paul, Mehta, Ankit, Deegan, Patrick B, Molnar, Maria Judit, Ortiz, Damara, Jovanovic, Ana, Muriello, Michael, Barshop, Bruce A, Kimonis, Virginia, Vujkovac, Bojan, Nowak, Albina, Geberhiwot, Tarekegn, Kantola, Ilkka, Knoll, Jasmine, Waldek, Stephen, Nedd, Khan, Karaa, Amel, Brill-Almon, Einat, Alon, Sari, Chertkoff, Raul, Rocco, Rossana, Sakov, Anat, Warnock, David G
Publikováno v:
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 6 p520-530, 11p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Limgala, Renuka P, Jennelle, Tabitha, Plassmeyer, Matthew, Boutin, Michel, Lavoie, Pamela, Abaoui, Mona, Auray-Blais, Christiane, Nedd, Khan, Alpan, Oral, Goker-Alpan, Ozlem
Fabry disease (FD) is a rare X-linked genetic disorder caused by mutations in the GLA gene encoding the lysosomal enzyme, α-galactosidase A (α-gal A). The mutations lead to lack of or faulty enzyme causing accumulation of globotriaosylceramide (Gb3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a883f04b0c14a6da63277d297855e3c
https://europepmc.org/articles/PMC6456521/
https://europepmc.org/articles/PMC6456521/
Publikováno v:
Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10
Autor:
Bernat, John, Holida, Myrl, Longo, Nicola, Goker-Alpan, Ozlem, Wallace, Eric, Deegan, Patrick, Nedd, Khan, Tondel, Camilla, Eyskens, Francois, Feldt-Rasmussen, Ulla, Pisani, Antonio, Rocco, Rossana, Almon, Einat, Alon, Sari, Chertkoff, Raul, Warnock, David, Waldek, Stephen, Wilcox, William
Publikováno v:
In Genetics in Medicine March 2022 24(3) Supplement:S91-S92
Autor:
Raphael Schiffmann, Virginia Kimonis, Patrick Deegan, Myrl Holida, Amel Karaa, Bojan Vujkovac, Bruce A. Barshop, Raul Chertkoff, William J. Rhead, Jerry Vockley, David G. Warnock, Ozlem Goker-Alpan, Aleš Linhart, Robert J. Hopkin, Camilla Tøndel, Maria Judit Molnar, Nicola Longo, William R. Wilcox, Pilar Giraldo, Wallace Eric, Nedd Khan
Publikováno v:
Molecular Genetics and Metabolism. 126:S150-S151
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d12dbb792ddd36f841c8449a3d2d7ff
https://doi.org/10.1016/j.ymgme.2018.12.389
https://doi.org/10.1016/j.ymgme.2018.12.389