Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anna Sidorina"'
Publikováno v:
Metabolites, Vol 14, Iss 8, p 428 (2024)
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation. These three diseases produce variou
Externí odkaz:
https://doaj.org/article/cc95d15cced542a0b78494b99afa20c7
Autor:
Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Et
Externí odkaz:
https://doaj.org/article/4522e8f9b2db4be2bc0e579ae42707e3
Autor:
Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera, Chiara Parrillo, Evelina Maines, Daniela Longo, Antonio Napolitano, Francesca De Nictolis, Sara Cairoli, Daniela Liccardo, Stefania Caviglia, Anna Sidorina, Giorgia Olivieri, Barbara Siri, Roberto Bianchi, Gionata Spagnoletti, Luca Dello Strologo, Marco Spada, Carlo Dionisi‐Vici
Publikováno v:
Journal of Inherited Metabolic Disease. 46:450-465
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4418e19a6249ddb56c474d192ee2ce1
https://doi.org/10.1002/jimd.12599
https://doi.org/10.1002/jimd.12599
Autor:
Sara Boenzi, Stefano Levi Mortera, Giulio Catesini, Federica Deodato, Lorenza Putignani, Matteo Garibaldi, Valeria Marzano, Roberta Taurisano, Anna Sidorina, Carlo Dionisi-Vici
Publikováno v:
Journal of Inherited Metabolic Disease. 44:705-717
Pompe disease (PD) is caused by deficiency of the enzyme acid α-glucosidase resulting in glycogen accumulation in lysosomes. Clinical symptoms include skeletal myopathy, respiratory failure, and cardiac hypertrophy. We studied plasma proteomic and l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c502ec14688699f1cd321d4ef07cda3d
https://doi.org/10.1002/jimd.12344
https://doi.org/10.1002/jimd.12344
Publikováno v:
Journal of cosmetic dermatologyREFERENCES.
Normal circadian rhythms are essential to the repair mechanisms of oxidative stress implicated in skin aging. Given reports that hyaluronic acid (HA) homeostasis exhibits a different profile in chronological skin aging, as compared to environmental o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4912c229687a869bf697f95a470a8a9e
https://pubmed.ncbi.nlm.nih.gov/35560862
https://pubmed.ncbi.nlm.nih.gov/35560862
Autor:
Michela Semeraro, Andrea Pietrobattista, Carlo Dionisi-Vici, Daniela Liccardo, Diego Martinelli, Giorgia Olivieri, Ivano Di Meo, Anna Sidorina, Chiara Grimaldi, Daniela Longo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Ethe1−/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591e488b8722b8e55eb84e3e9394a4fc
https://doi.org/10.1186/s13023-021-01867-5
https://doi.org/10.1186/s13023-021-01867-5
Autor:
Pamela Vernocchi, Rachele Adorisio, S. Levi Mortera, Lorenza Putignani, Nicoletta Cantarutti, Anna Sidorina, Anwar Baban, Fabrizio Drago, Antonio Amodeo
Publikováno v:
The Journal of Heart and Lung Transplantation. 40:S463-S464
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c4c45b7b82d87363a1e7dae5756e8d6
https://doi.org/10.1016/j.healun.2021.01.1285
https://doi.org/10.1016/j.healun.2021.01.1285