Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle, Johannes, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Karall, Daniela, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Pintos‐Morell, Guillem, Santer, René, Skouma, Anastasia, Servais, Aude, Tal, Galit, Rubio, Vicente, Huemer, Martina, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Journal Article
Maple Syrup Urine Disease and Domino Liver Transplantation: When and How?
Spada, Marco, Angelico, Roberta, Dionisi‐Vici, Carlo
Published in Liver transplantation (01.06.2019)
Published in Liver transplantation (01.06.2019)
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Cobalamin C defect: natural history, pathophysiology, and treatment
Martinelli, Diego, Deodato, Federica, Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Journal Article
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia
Maines, Evelina, Catesini, Giulio, Boenzi, Sara, Mosca, Antonella, Candusso, Manila, Dello Strologo, Luca, Martinelli, Diego, Maiorana, Arianna, Liguori, Alessandra, Olivieri, Giorgia, Taurisano, Roberta, Piemonte, Fiorella, Rizzo, Cristiano, Spada, Marco, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism
Greco, Benedetta, Caviglia, Stefania, Martinelli, Diego, Capitello, Teresa Grimaldi, Liccardo, Daniela, De Nictolis, Francesca, Pietrobattista, Andrea, Huemer, Martina, Piga, Simone, Olivieri, Giorgia, Spagnoletti, Gionata, Spada, Marco, Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.09.2023)
Published in Journal of inherited metabolic disease (01.09.2023)
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Journal Article
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria
Parolisi, Sara, Montanari, Chiara, Borghi, Elisa, Cazzorla, Chiara, Zuvadelli, Juri, Tosi, Martina, Barone, Rita, Bensi, Giulia, Bonfanti, Cristina, Dionisi Vici, Carlo, Biasucci, Giacomo, Burlina, Alberto, Carbone, Maria T., Verduci, Elvira
Published in Pharmacological research (01.11.2023)
Published in Pharmacological research (01.11.2023)
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Journal Article
Obituary for Claude Bachmann, MD (1941–2022)
Batshaw, Mark L., Braissant, Olivier, Dionisi‐Vici, Carlo, Steinmann, Beat, Superti‐Furga, Andrea
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects
Baruteau, Julien, Diez‐Fernandez, Carmen, Lerner, Shaul, Ranucci, Giusy, Gissen, Paul, Dionisi‐Vici, Carlo, Nagamani, Sandesh, Erez, Ayelet, Häberle, Johannes
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
Torraco, Alessandra, Nasca, Alessia, Verrigni, Daniela, Pennisi, Alessandra, Zaki, Maha S., Olivieri, Giorgia, Assouline, Zahra, Martinelli, Diego, Maroofian, Reza, Rizza, Teresa, Di Nottia, Michela, Invernizzi, Federica, Lamantea, Eleonora, Longo, Daniela, Houlden, Henry, Prokisch, Holger, Rötig, Agnès, Dionisi‐Vici, Carlo, Bertini, Enrico, Ghezzi, Daniele, Carrozzo, Rosalba, Diodato, Daria
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
Manoli, Irini, Gebremariam, Abigael, McCoy, Samantha, Pass, Alexandra R., Gagné, Jack, Hall, Camryn, Ferry, Susan, Van Ryzin, Carol, Sloan, Jennifer L., Sacchetti, Elisa, Catesini, Giulio, Rizzo, Cristiano, Martinelli, Diego, Spada, Marco, Dionisi‐Vici, Carlo, Venditti, Charles P.
Published in Journal of inherited metabolic disease (01.07.2023)
Published in Journal of inherited metabolic disease (01.07.2023)
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Journal Article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, Sudakhar, Sniya, Chan, Alicia, Mills, Philippa, Ridout, Debora, Gissen, Paul, Dionisi‐Vici, Carlo, Baruteau, Julien
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Journal Article
Neurologic outcome following liver transplantation for methylmalonic aciduria
Martinelli, Diego, Catesini, Giulio, Greco, Benedetta, Guarnera, Alessia, Parrillo, Chiara, Maines, Evelina, Longo, Daniela, Napolitano, Antonio, De Nictolis, Francesca, Cairoli, Sara, Liccardo, Daniela, Caviglia, Stefania, Sidorina, Anna, Olivieri, Giorgia, Siri, Barbara, Bianchi, Roberto, Spagnoletti, Gionata, Dello Strologo, Luca, Spada, Marco, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.05.2023)
Published in Journal of inherited metabolic disease (01.05.2023)
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Journal Article
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding
Sidorina, Anna, Catesini, Giulio, Levi Mortera, Stefano, Marzano, Valeria, Putignani, Lorenza, Boenzi, Sara, Taurisano, Roberta, Garibaldi, Matteo, Deodato, Federica, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Recommendations for the management of tyrosinaemia type 1
de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute
Published in Orphanet journal of rare diseases (11.01.2013)
Published in Orphanet journal of rare diseases (11.01.2013)
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Journal Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure
Pietrobattista, Andrea, Spada, Marco, Candusso, Manila, Boenzi, Sara, Dionisi‐Vici, Carlo, Francalanci, Paola, Morrone, Amelia, Ferri, Lorenzo, Indolfi, Giuseppe, Agolini, Emanuele, Giordano, Giuseppe, Monti, Lidia, Maggiore, Giuseppe, Knisely, A. S.
Published in Pediatric transplantation (01.09.2022)
Published in Pediatric transplantation (01.09.2022)
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Chronic liver involvement in urea cycle disorders
Ranucci, Giusy, Rigoldi, Miriam, Cotugno, Giovanna, Bernabei, Silvia Maria, Liguori, Alessandra, Gasperini, Serena, Goffredo, Bianca Maria, Martinelli, Diego, Monti, Lidia, Francalanci, Paola, Candusso, Manila, Parini, Rossella, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article