Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Cremonesi, Alessio"'
Autor:
Righini, Marc *, Robert-Ebadi, Helia, Cremonesi, Alessio, Elias, Antoine, Sanchez, Olivier, Le Moigne, Emmanuelle, Schmidt, Jeannot, Le Gall, Catherine, Cornuz, Jacques, Aujesky, Drahomir, Roy, Pierre-Marie, Chauleur, Céline, Rouyer, Frédéric, Poletti, Pierre-Alexandre, Moreau, Caroline, Le Gal, Grégoire
Publikováno v:
In Journal of Thrombosis and Haemostasis November 2022 20(11):2550-2555
Autor:
Floriou-Servou, Amalia, von Ziegler, Lukas, Stalder, Luzia, Sturman, Oliver, Privitera, Mattia, Rassi, Anahita, Cremonesi, Alessio, Thöny, Beat, Bohacek, Johannes
Publikováno v:
In Biological Psychiatry 1 October 2018 84(7):531-541
Autor:
Cremonesi, Alessio, Meili, David, Rassi, Anahita, Poms, Martin, Tavazzi, Barbara, Škopová, Václava, Häberle, Johannes, Zikánová, Marie, Hersberger, Martin
Objectives To develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to quantify 41 different purine and pyrimidine (PuPy) metabolites in human urine to allow detection of most known disorders in this metabolic pathway and to dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e7325c5567f6f0b314ab32aa07ce3a
https://doi.org/10.5167/uzh-232922
https://doi.org/10.5167/uzh-232922
Autor:
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative
Externí odkaz:
https://doaj.org/article/72c5aea539634421966302e0bad09721
Objective Supraphysiologic doses of anabolic androgenic steroids (AAS) are widely used to improve body image and sport performance goals. These substances can easily be acquired over the internet, leading to a substantial black market. We reviewed li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a68e43c4a40e237b0d0b903e5295db4
https://www.zora.uzh.ch/id/eprint/227271/
https://www.zora.uzh.ch/id/eprint/227271/
Autor:
Hartling, Ivan, Cremonesi, Alessio, Osuna, Ester, Lou, Phing-How, Lucchinetti, Eliana, Zaugg, Michael, Hersberger, Martin
Publikováno v:
Clinical Chemistry and Laboratory Medicine, 59 (11)
Objectives Lipid mediators are bioactive lipids which help regulate inflammation. We aimed to develop an ultra-high-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) method to quantify 58 pro-inflammatory and pro-resolving lipi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e27e5393918f3497d08c85dfc9e5db
https://doi.org/10.1515/cclm-2021-0644
https://doi.org/10.1515/cclm-2021-0644
Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmaco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec735dd4d44dfdfcbdf8ec4d6155405c
Additional file 2. Extraction form.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a594344c4af50b8428a2f1868f05cd7
Autor:
Krohn, Patrick, Rega, Laura Rita, Harvent, Marianne, Festa, Beatrice Paola, Taranta, Anna, Luciani, Alessandro, Dewulf, Joseph, Cremonesi, Alessio, Camassei, Francesca Diomedi, Hanson, James V M, Gerth-Kahlert, Christina, Emma, Francesco, Berquez, Marine, Devuyst, Olivier
Publikováno v:
Human Molecular Genetics, Vol. 31, no.13, p. 2262-2278 (2022)
Recessive mutations in the CTNS gene encoding the lysosomal transporter cystinosin cause cystinosis, a lysosomal storage disease leading to kidney failure and multisystem manifestations. A Ctns knockout mouse model recapitulates features of cystinosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4922da81b328fcf157aa11aa98e6ae
Additional file 4. Main outcome analyses.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162ffda4ed1a64d24d44b02e74a37911