অনুসন্ধান ফলাফলগুলি - Radenkovic, Silvia
- প্রদর্শন 1 - 10 ফলাফল এর 10
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Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice অনুযায়ী Preston, Graeme, Emmerzaal, Tim, Radenkovic, Silvia, Lanza, Ian R., Oglesbee, Devin, Morava, Eva, Kozicz, Tamas
প্রকাশিত 2021পাঠ্য -
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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder অনুযায়ী Morava, Eva, Schatz, Ulrich A., Torring, Pernille M., Abbott, Mary-Alice, Baumann, Matthias, Brasch-Andersen, Charlotte, Chevalier, Nathalie, Dunkhase-Heinl, Ulrike, Fleger, Martin, Haack, Tobias B., Nelson, Stephen, Potelle, Sven, Radenkovic, Silvia, Bommer, Guido T., Van Schaftingen, Emile, Veiga-da-Cunha, Maria
প্রকাশিত 2021পাঠ্য -
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Expanding the Clinical and Metabolic Phenotype of DPM2 deficient Congenital Disorders of Glycosylation অনুযায়ী Radenkovic, Silvia, Fitzpatrick-Schmidt, Taylor, Byeon, Seul Kee, Madugundu, Anil K., Saraswat, Mayank, Lichty, Angie, Wong, Sunnie YW, McGee, Stephen, Kubiak, Katharine, Ligezka, Anna, Ranatunga, Wasantha, Zhang, Yuebo, Wood, Tim, Friez, Michael J, Clarkson, Katie, Pandey, Akhilesh, Jones, Julie R, Morava, Eva
প্রকাশিত 2020পাঠ্য -
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation অনুযায়ী Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
প্রকাশিত 2020পাঠ্য -
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A complement C4–derived glycopeptide is a biomarker for PMM2-CDG অনুযায়ী Garapati, Kishore, Budhraja, Rohit, Saraswat, Mayank, Kim, Jinyong, Joshi, Neha, Sachdeva, Gunveen S., Jain, Anu, Ligezka, Anna N., Radenkovic, Silvia, Ramarajan, Madan Gopal, Udainiya, Savita, Raymond, Kimiyo, He, Miao, Lam, Christina, Larson, Austin, Edmondson, Andrew C., Sarafoglou, Kyriakie, Larson, Nicholas B., Freeze, Hudson H., Schultz, Matthew J., Kozicz, Tamas, Morava, Eva, Pandey, Akhilesh
প্রকাশিত 2024পাঠ্য -
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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG অনুযায়ী Radenkovic, Silvia, Bird, Matthew J., Emmerzaal, Tim L., Wong, Sunnie Y., Felgueira, Catarina, Stiers, Kyle M., Sabbagh, Leila, Himmelreich, Nastassja, Poschet, Gernot, Windmolders, Petra, Verheijen, Jan, Witters, Peter, Altassan, Ruqaiah, Honzik, Tomas, Eminoglu, Tuba F., James, Phillip M., Edmondson, Andrew C., Hertecant, Jozef, Kozicz, Tamas, Thiel, Christian, Vermeersch, Pieter, Cassiman, David, Beamer, Lesa, Morava, Eva, Ghesquière, Bart
প্রকাশিত 2019পাঠ্য -
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Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications অনুযায়ী Ligezka, Anna N., Radenkovic, Silvia, Saraswat, Mayank, Garapati, Kishore, Ranatunga, Wasantha, Krzysciak, Wirginia, Yanaihara, Hitoshi, Preston, Graeme, Brucker, William, McGovern, Renee M., Reid, Joel M., Cassiman, David, Muthusamy, Karthik, Johnsen, Christin, Mercimek-Andrews, Saadet, Larson, Austin, Lam, Christina, Edmondson, Andrew C., Ghesquière, Bart, Witters, Peter, Raymond, Kimiyo, Oglesbee, Devin, Pandey, Akhilesh, Perlstein, Ethan O., Kozicz, Tamas, Morava, Eva
প্রকাশিত 2021পাঠ্য -
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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management অনুযায়ী Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari-Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
প্রকাশিত 2020পাঠ্য