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pro vyhledávání: '"Giuliano, Joseph D"'
Akademický článek
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Autor:
West, Michael L., Hughes, Derralynn, Sunder-Plassmann, Gere, Jovanovic, Ana, Brand, Eva, Bichet, Daniel G., Pisani, Antonio, Nowak, Albina, Torra, Roser, Khan, Aneal, Azevedo, Olga, Lehman, Anna, Linhart, Aleš, Rutecki, Jasmine, Giuliano, Joseph D., Krusinska, Eva, Nordbeck, Peter
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Veleva-Rotse, Biliana O., Giuliano, Joseph D., McPherson, Katherine L., Willcock, Andrew T., McLaughlin, Heather M.
Publikováno v:
In Molecular Genetics and Metabolism February 2023 138(2)
Autor:
Jovanovic, Ana, Nordbeck, Peter, Pisani, Antonio, Nowak, Albina, Feldt-Rasmussen, Ulla, Brand, Eva, Hughes, Derralynn A., Bichet, Daniel G., West, Michael L., Nicholls, Kathleen, Hopkin, Robert J., Giugliani, Roberto, Politei, Juan, Veleva-Rotse, Biliana O., Rutecki, Jasmine, Giuliano, Joseph D., Krusinska, Eva, Sunder-Plassmann, Gere
Publikováno v:
In Molecular Genetics and Metabolism February 2023 138(2)
Autor:
Hughes, Derralynn, Sunder-Plassmann, Gere, Jovanovic, Ana, Brand, Eva, West, Michael L., Bichet, Daniel G., Pisani, Antonio, Nowak, Albina, Torra, Roser, Khan, Aneal, Azevedo, Olga, Lehman, Anna, Rutecki, Jasmine, Giuliano, Joseph D., Krusinska, Eva, Nordbeck, Peter
Publikováno v:
In Molecular Genetics and Metabolism February 2023 138(2)
Autor:
Jefferies, John L., Spencer, Alison K., Lau, Heather A., Nelson, Matthew W., Giuliano, Joseph D., Zabinski, Joseph W., Boussios, Costas, Curhan, Gary, Gliklich, Richard E., Warnock, David G.
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Background Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likely significantly underdiagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e74e01a9eff8b3b901ddd503c41950fa
https://doi.org/10.1186/s13023-021-02150-3
https://doi.org/10.1186/s13023-021-02150-3
Autor:
Jefferies, John L., Spencer, Alison K., Warnock, David G., Lau, Heather A., Nelson, Matthew W., Giuliano, Joseph D., Zabinski, Joseph W., Boussios, Costas, Curhan, Gary, Bandaria, Jigar N., Gliklich, Richard E.
Publikováno v:
In Molecular Genetics and Metabolism February 2021 132(2):S52-S52
Publikováno v:
In Pediatric Neurology 2000 22(5):380-383
Autor:
Singer, Harvey S *, Giuliano, Joseph D, Hansen, Bendt H, Hallett, Joseph J, Laurino, Joseph P, Benson, Margaret, Kiessling, Louise S
Publikováno v:
In Biological Psychiatry 1999 46(6):775-780
Autor:
West, Michael L., Hughes, Derralynn, Sunder-Plassmann, Gere, Jovanovic, Ana, Brand, Eva, Bichet, Daniel G., Pisani, Antonio, Nowak, Albina, Torra, Roser, Khan, Aneal, Azevedo, Olga, Lehman, Anna, Linhart, Ales, Rutecki, Jasmine L., Giuliano, Joseph D., Krusinska, Eva
Publikováno v:
Journal of the American Society of Nephrology; November 2023, Vol. 34 Issue: 11, Number 11 Supplement 11 p952-952, 1p