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1دورية أكاديمية
المؤلفون: Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, LipiÅ„ski, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry
المصدر: School of Medicine Faculty Publications
مصطلحات موضوعية: Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH, Hepatology, Medical Genetics, Pediatrics
وصف الملف: application/pdf
العلاقة: https://digitalscholar.lsuhsc.edu/som_facpubs/2099Test; https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3100/viewcontent/ImpactOfGeneticAndNonGeneticFactorsOnPhenotype_2024.pdfTest
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108118Test
https://digitalscholar.lsuhsc.edu/som_facpubs/2099Test
https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3100/viewcontent/ImpactOfGeneticAndNonGeneticFactorsOnPhenotype_2024.pdfTest -
2دورية أكاديمية
المؤلفون: Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, Francesco, Fiumara, Agata, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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3كتاب
المصدر: Van Spronsen , F J , Burlina , A & Vici , C D 2022 , Tyrosine Metabolism . in Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition . Springer International Publishing AG , pp. 353-364 . https://doi.org/10.1007/978-3-030-67727-5_21Test
وصف الملف: application/pdf
العلاقة: https://research.rug.nl/en/publications/bb460e8e-2f06-4fa0-8189-25965387d920Test; urn:ISBN:9783030721831
الإتاحة: https://doi.org/10.1007/978-3-030-67727-5_21Test
https://hdl.handle.net/11370/bb460e8e-2f06-4fa0-8189-25965387d920Test
https://research.rug.nl/en/publications/bb460e8e-2f06-4fa0-8189-25965387d920Test
https://pure.rug.nl/ws/files/869134800/Tyrosine_Metabolism.pdfTest
http://www.scopus.com/inward/record.url?scp=85169390246&partnerID=8YFLogxKTest -
4دورية أكاديمية
المؤلفون: Dello Strologo, Luca, Spada, Marco, Vici, Carlo Dionisi, Atti, Marta Ciofi Degli, Rheault, Michelle, Bjerre, Anna Kristina, Boyer, Olivia, Calvo, Pier Luigi, D'Antiga, Lorenzo, Harshman, Lyndsay A., Hörster, Friederike, Kölker, Stefan, Jahnukainen, Timo, Knops, Noël, Krug, Pauline, Krupka, Kai, Lee, Angela, Levtchenko, Elena, Marks, Stephen D., Stojanovic, Jelena, Martelli, Laura, Mazariegos, George, Montini, Giovanni, Shenoy, Mohan, Sidhu, Sangeet, Tangeras, Trine, Testa, Sara, Vijay, Suresh, Wac, Katarzyna, Wennberg, Lars, Concepcion, Waldo, Garbade, Sven F., Tönshoff, Burkhard
المصدر: ISSN: 1096-7192 ; Molecular genetics and metabolism, vol. 137, no. 3 (2022) p. 265-272.
مصطلحات موضوعية: info:eu-repo/classification/ddc/025.06/650, Methylmalonic acidemia Methylmalonic acid Estimated glomerular filtration rate Kidney transplantation Liver transplantation Combined liver, Kidney transplantation
العلاقة: https://archive-ouverte.unige.ch/unige:165997Test; unige:165997
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5دورية أكاديمية
المؤلفون: Ranucci, Giusy, Della Corte, Claudia, Alberti, Daniele, Bondioni, Maria Pia, Boroni, Giovanni, Calvo, Pier Luigi, Cananzi, Mara, Candusso, Manila, Clemente, Maria Grazia, D'Antiga, Lorenzo, Degrassi, Irene, De Ville De Goyet, Jean, Di Dato, Fabiola, Di Giorgio, Angelo, Vici, Carlo Dionisi, Ferrari, Federica, Francalanci, Paola, Fuoti, Maurizio, Fusaro, Fabio, Gaio, Paola, Grimaldi, Chiara, Iascone, Maria, Indolfi, Giuseppe, Iorio, Raffaele, Maggiore, Giuseppe, Mandato, Claudia, Matarazzo, Lorenza, Monti, Lidia, Mosca, Fabio, Nebbia, Gabriella, Nuti, Federica, Paolella, Giulia, Pinon, Michele, Roggero, Paola, Sciveres, Marco, Serranti, Daniele, Spada, Marco, Vajro, Pietro, Nicastro, Emanuele
المصدر: Digestive and Liver Disease ; volume 54, issue 1, page 40-53 ; ISSN 1590-8658
مصطلحات موضوعية: Gastroenterology, Hepatology
الإتاحة: https://doi.org/10.1016/j.dld.2021.09.011Test
https://api.elsevier.com/content/article/PII:S1590865821007805?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1590865821007805?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Jones, Simon A., McGovern, Margaret M., Lidove, Olivier, Giugliani, Roberto, Mistry, Pramod, Vici, Carlo Dionisi, Munõz Rojas, Maria Verônica, Nalysnyk, Lubomyra, Schecter, Alison D., Wasserstein, Melissa P.
مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Ensaios clínicos como assunto, Revisão, Acid sphingomyelin deficiency, Niemann-Pick Types A, /B, Lysosomal storage disorder, Disease burden
وصف الملف: application/pdf
العلاقة: Molecular genetics and metabolism. Amsterdam. Vol. 131, no. 1-2 (2020), p. 116-123; http://hdl.handle.net/10183/220890Test; 001121544
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7دورية أكاديمية
المؤلفون: Simeoli, Raffaele, Cairoli, Sara, Galaverna, Federica, Becilli, Marco, Boccieri, Emilia, Antonetti, Giacomo, Vitale, Alessia, Mancini, Alessandro, Rossi, Chiara, Vici, Carlo Dionisi, Goffredo, Bianca Maria
المساهمون: Ministero dell'Istruzione dell'Universita e della Ricerca, Ministero della Salute
المصدر: Journal of Pharmaceutical and Biomedical Analysis ; volume 236, page 115688 ; ISSN 0731-7085
مصطلحات موضوعية: Clinical Biochemistry, Spectroscopy, Drug Discovery, Pharmaceutical Science, Analytical Chemistry
الإتاحة: https://doi.org/10.1016/j.jpba.2023.115688Test
https://api.elsevier.com/content/article/PII:S0731708523004570?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0731708523004570?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn
المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....
الإتاحة: https://doi.org/10.1186/s13023-019-1091-8Test
https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31142374Test -
9دورية أكاديمية
المؤلفون: Heard, Jean Michel, Bellettato, Cinzia, Van Lingen, Corine, Scarpa, Maurizio, Debray, François Guillaume, Nassogne, Marie Cécile, Van Coster, Rudy, De Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, De Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo Dionisi, Di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, Van Der Ploeg, Ans, Rubio-Gozalbo, Maria Estela, Van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata
المساهمون: Metabole ziekten patientenzorg
مصطلحات موضوعية: Europe, Humans, Interdisciplinary Research/methods, Quality of Life, Surveys and Questionnaires, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: image/pdf
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10دورية أكاديمية
المؤلفون: Dallapiccola, Bruno, Moriconi, Stefano, Rugge, Massimo, Cardillo, Massimo, Carcassi, Carlo, Colledan, Michele, Strologo, Luca Dello, Vici, Carlo Dionisi, Facchin, Paola, Gridelli, Bruno, La Rocca, Valentino, Lombardini, Letizia, Mazzucato, Monica, Peritore, Daniela, Amoroso, Antonio
المساهمون: Dallapiccola, Bruno, Moriconi, Stefano, Rugge, Massimo, Cardillo, Massimo, Carcassi, Carlo, Colledan, Michele, Strologo, Luca Dello, Vici, Carlo Dionisi, Facchin, Paola, Gridelli, Bruno, La Rocca, Valentino, Lombardini, Letizia, Mazzucato, Monica, Peritore, Daniela, Amoroso, Antonio
مصطلحات موضوعية: guideline, organ donor, rare disease, risk assessment
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35906735; firstpage:1; lastpage:21; numberofpages:21; journal:CLINICAL TRANSPLANTATION; http://hdl.handle.net/2318/1871738Test
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