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Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
Published in:
2016
By:
- Dionisi-Vici, Carlo;
- Diodato, Daria;
- Torre, Giuliano;
- Picca, Stefano;
- Pariante, Rosanna;
- Picardo, Sergio Giuseppe;
- Di Meo, Ivano;
- Rizzo, Cristiano;
- Tiranti, Valeria;
- Zeviani, Massimo;
- De Goyet, Jean De Ville;
- Giuseppe Picardo, Sergio;
- De Ville De Goyet, Jean
Publication type:
journal article
Organic acidurias in Egyptian children: The urge for high‐risk screening.
Published in:
Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15469
By:
- Mehaney, Dina A.;
- Seliem, Zeinab S.;
- Selim, Laila A.;
- Khalil, Mona S.;
- Abou‐Youssef, Hazem S.;
- Elsayed, Elham M.;
- Abdou, Doaa M.;
- Rizzo, Cristiano;
- Dioniasi‐Vici, Carlo;
- Abdelazim, Aya M.;
- Elkady, Sherihan H.
Publication type:
Article
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.
Published in:
Metabolites (2218-1989), 2024, v. 14, n. 8, p. 428, doi. 10.3390/metabo14080428
By:
- Sidorina, Anna;
- Catesini, Giulio;
- Sacchetti, Elisa;
- Rizzo, Cristiano;
- Dionisi-Vici, Carlo
Publication type:
Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
By:
- Baban, Anwar;
- Adorisio, Rachele;
- Corica, Bernadette;
- Rizzo, Cristiano;
- Calì, Federica;
- Semeraro, Michela;
- Taurisano, Roberta;
- Magliozzi, Monia;
- Carrozzo, Rosalba;
- Parisi, Francesco;
- Dallapiccola, Bruno;
- Vaz, Frédéric M.;
- Drago, Fabrizio;
- Dionisi‐Vici, Carlo
Publication type:
Article
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Published in:
International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8141, doi. 10.3390/ijerph19138141
By:
- Semeraro, Daniela;
- Verrocchio, Sara;
- Di Dalmazi, Giulia;
- Rossi, Claudia;
- Pieragostino, Damiana;
- Cicalini, Ilaria;
- Ferrante, Rossella;
- Di Michele, Silvia;
- Stuppia, Liborio;
- Rizzo, Cristiano;
- Lepri, Francesca Romana;
- Novelli, Antonio;
- Dionisi-Vici, Carlo;
- De Laurenzi, Vincenzo;
- Bucci, Ines
Publication type:
Article
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Published in:
International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1659, doi. 10.3390/ijerph18041659
By:
- Cicalini, Ilaria;
- Pieragostino, Damiana;
- Rizzo, Cristiano;
- Verrocchio, Sara;
- Semeraro, Daniela;
- Zucchelli, Mirco;
- Di Michele, Silvia;
- Dionisi-Vici, Carlo;
- Stuppia, Liborio;
- De Laurenzi, Vincenzo;
- Bucci, Ines;
- Rossi, Claudia;
- Chiefari, Eusebio
Publication type:
Article
Ethylmalonic encephalopathy : Further clinical and neuroradiological characterization.
Published in:
Journal of Neurology, 2002, v. 249, n. 10, p. 1446, doi. 10.1007/s00415-002-0880-4
By:
- Grosso, Salvatore;
- Mostardini, Rosa;
- Farnetani, Maria Angela;
- Molinelli, Massimo;
- Berardi, Rosario;
- Dionisi-Vici, Carlo;
- Rizzo, Cristiano;
- Morgese, Guido;
- Balestri, Paolo
Publication type:
Article
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.
Published in:
2016
By:
- Salvatori, Guglielmo;
- Mondì, Vito;
- Piersigilli, Fiammetta;
- Capolupo, Irma;
- Pannone, Veronica;
- Vici, Carlo Dionisi;
- Rizzo, Cristiano;
- Dotta, Andrea
Publication type:
journal article
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389
By:
- Rosalba Carrozzo;
- Carlo Dionisi-Vici;
- Ulrike Steuerwald;
- Simona Lucioli;
- Federica Deodato;
- Sivia Di Giandomenico;
- Enrico Bertini;
- Barbara Franke;
- Leo A. J. Kluijtmans;
- Maria Chiara Meschini;
- Cristiano Rizzo;
- Fiorella Piemonte;
- Richard Rodenburg;
- René Santer;
- Filippo M. Santorelli;
- Arno van Rooij;
- Diana Vermunt-de Koning;
- Eva Morava;
- Ron A. Wevers
Publication type:
Article
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Published in:
2021
By:
- Semeraro, Michela;
- Sacchetti, Elisa;
- Deodato, Federica;
- Coşkun, Turgay;
- Lay, Incilay;
- Catesini, Giulio;
- Olivieri, Giorgia;
- Rizzo, Cristiano;
- Boenzi, Sara;
- Dionisi-Vici, Carlo
Publication type:
journal article
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636
By:
- 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.
Publication type:
Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
By:
- Marti‐Sanchez, Laura;
- Baide‐Mairena, Heidy;
- Marcé‐Grau, Anna;
- Pons, Roser;
- Skouma, Anastasia;
- López‐Laso, Eduardo;
- Sigatullina, Maria;
- Rizzo, Cristiano;
- Semeraro, Michela;
- Martinelli, Diego;
- Carrozzo, Rosalba;
- Dionisi‐Vici, Carlo;
- González‐Gutiérrez‐Solana, Luis;
- Correa‐Vela, Marta;
- Ortigoza‐Escobar, Juan Dario;
- Sánchez‐Montañez, Ángel;
- Vazquez, Élida;
- Delgado, Ignacio;
- Aguilera‐Albesa, Sergio;
- Yoldi, María Eugenia
Publication type:
Article
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
By:
- 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
Publication type:
Article
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7
By:
- Dionisi-Vici, Carlo;
- Shteyer, Eyal;
- Niceta, Marcello;
- Rizzo, Cristiano;
- Pode-Shakked, Ben;
- Chillemi, Giovanni;
- Bruselles, Alessandro;
- Semeraro, Michela;
- Barel, Ortal;
- Eyal, Eran;
- Kol, Nitzan;
- Haberman, Yael;
- Lahad, Avishai;
- Diomedi-Camassei, Francesca;
- Marek-Yagel, Dina;
- Rechavi, Gideon;
- Tartaglia, Marco;
- Anikster, Yair
Publication type:
Article
Creatine metabolism in urea cycle defects.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 647, doi. 10.1007/s10545-012-9494-x
By:
- Boenzi, Sara;
- Pastore, Anna;
- Martinelli, Diego;
- Goffredo, Bianca;
- Boiani, Arianna;
- Rizzo, Cristiano;
- Dionisi-Vici, Carlo
Publication type:
Article
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.
Published in:
Pediatric Nephrology, 2001, v. 16, n. 11, p. 862, doi. 10.1007/s004670100702
By:
- Picca, S.;
- Dionisi-Vici, Carlo;
- Abeni, Damiano;
- Pastore, Anna;
- Rizzo, Cristiano;
- Orzalesi, Marcello;
- Sabetta, Gaetano;
- Rizzoni, Gianfranco;
- Bartuli, Andrea
Publication type:
Article
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Published in:
International Journal of Environmental Research & Public Health, 2020, v. 17, n. 10, p. 3601, doi. 10.3390/ijerph17103601
By:
- Rossi, Claudia;
- Cicalini, Ilaria;
- Rizzo, Cristiano;
- Zucchelli, Mirco;
- Consalvo, Ada;
- Valentinuzzi, Silvia;
- Semeraro, Daniela;
- Gasparroni, Giorgia;
- Brindisino, Patrizia;
- Gazzolo, Diego;
- Dionisi-Vici, Carlo;
- De Laurenzi, Vincenzo;
- Pieragostino, Damiana
Publication type:
Article
Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso.
Published in:
Investigación Clínica, 2007, v. 48, n. 1, p. 99
By:
- Mahfoud, Antonieta;
- Domín guez, Carmen L.;
- Pérez, Analy;
- Rizzo, Cristiano;
- Merinero, Begoña;
- Pérez, Belén
Publication type:
Article
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Published in:
Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186
By:
- Kranendijk, Martijn;
- Struys, Eduard A.;
- Gibson, K. Michael;
- Wickenhagen, Wjera V.;
- Abdenur, Jose E.;
- Buechner, Jochen;
- Christensen, Ernst;
- de Kremer, Raquel Dodelson;
- Errami, Abdellatif;
- Gissen, Paul;
- Gradowska, Wanda;
- Hobson, Emma;
- Islam, Lily;
- Korman, Stanley H.;
- Kurczynski, Thaddeus;
- Maranda, Bruno;
- Meli, Concetta;
- Rizzo, Cristiano;
- Sansaricq, Claude;
- Trefz, Friedrich K.
Publication type:
Article
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1307934
By:
- Cocciadiferro, Dario;
- Mazza, Tommaso;
- Vecchio, Davide;
- Biagini, Tommaso;
- Petrizzelli, Francesco;
- Agolini, Emanuele;
- Villani, Andrea;
- Minervino, Daniele;
- Martinelli, Diego;
- Rizzo, Cristiano;
- Boenzi, Sara;
- Panfili, Filippo Maria;
- Buonuomo, Paola Sabrina;
- Macchiaiolo, Marina;
- Bartuli, Andrea;
- Novelli, Antonio
Publication type:
Article
Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype.
Published in:
PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208171
By:
- Vernocchi, Pamela;
- Del Chierico, Federica;
- Russo, Alessandra;
- Majo, Fabio;
- Rossitto, Martina;
- Valerio, Mariacristina;
- Casadei, Luca;
- La Storia, Antonietta;
- De Filippis, Francesca;
- Rizzo, Cristiano;
- Manetti, Cesare;
- Paci, Paola;
- Ercolini, Danilo;
- Marini, Federico;
- Fiscarelli, Ersilia Vita;
- Dallapiccola, Bruno;
- Lucidi, Vincenzina;
- Miccheli, Alfredo;
- Putignani, Lorenza
Publication type:
Article
Nutritional Counseling and Mediterranean Diet in Adrenoleukodystrophy: A Real-Life Experience.
Published in:
Nutrients, 2024, v. 16, n. 19, p. 3341, doi. 10.3390/nu16193341
By:
- Spreghini, Maria Rita;
- Gianni, Nicoletta;
- Todisco, Tommaso;
- Rizzo, Cristiano;
- Cappa, Marco;
- Manco, Melania
Publication type:
Article

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