Renal Mitochondrial Cytopathies

od Emma, Francesco, Montini, Giovanni, Salviati, Leonardo, Dionisi-Vici, Carlo
Izdano 2011

Safety of vaccines administration in hereditary fructose intolerance

od Maiorana, Arianna, Sabia, Antonella, Corsetti, Tiziana, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2020)

Vici syndrome: a review

od Byrne, Susan, Dionisi-Vici, Carlo, Smith, Luke, Gautel, Mathias, Jungbluth, Heinz
izdano v Orphanet J Rare Dis (2016)

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Inte...

od Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco
izdano v Front Neurol (2019)

Differential diagnosis of food protein-induced enterocolitis syndrome

od Fiocchi, Alessandro, Claps, Alessia, Dahdah, Lamia, Brindisi, Giulia, Dionisi-Vici, Carlo, Martelli, Alberto
Izdano 2014

CUGC for lysinuric protein intolerance (LPI)

od Martinelli, Diego, Schiff, Manuel, Semeraro, Michela, Agolini, Emanuele, Novelli, Antonio, Dionisi-Vici, Carlo
izdano v Eur J Hum Genet (2020)

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

od Boenzi, Sara, Deodato, Federica, Taurisano, Roberta, Goffredo, Bianca Maria, Rizzo, Cristiano, Dionisi-Vici, Carlo
izdano v J Lipid Res (2016)

Clinical utility gene card for: Vici Syndrome

od Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz
Izdano 2014

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

od Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2015)

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

od Maiorana, Arianna, Manganozzi, Lucilla, Barbetti, Fabrizio, Bernabei, Silvia, Gallo, Giorgia, Cusmai, Raffaella, Caviglia, Stefania, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2015)

Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage

od Pastore, Anna, Alisi, Anna, di Giovamberardino, Gianna, Crudele, Annalisa, Ceccarelli, Sara, Panera, Nadia, Dionisi-Vici, Carlo, Nobili, Valerio
izdano v Int J Mol Sci (2014)

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

od Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2019)

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children

od Galeotti, Angela, De Rosa, Sara, Uomo, Roberto, Dionisi-Vici, Carlo, Deodato, Federica, Taurisano, Roberta, Olivieri, Giorgia, Festa, Paola
izdano v Orphanet J Rare Dis (2020)

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

od Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, de Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
izdano v J Inherit Metab Dis (2020)

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

od Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna
izdano v Mol Genet Genomic Med (2019)

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

od Martinelli, Diego, Fiermonte, Giuseppe, Häberle, Johannes, Boenzi, Sara, Goffredo, Bianca Maria, Travaglini, Lorena, Agolini, Emanuele, Porcelli, Vito, Dionisi-Vici, Carlo
izdano v Eur J Hum Genet (2020)

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

od Semeraro, Michela, Sacchetti, Elisa, Deodato, Federica, Coşkun, Turgay, Lay, Incilay, Catesini, Giulio, Olivieri, Giorgia, Rizzo, Cristiano, Boenzi, Sara, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2021)

Analysis of LPI-causing mutations on y+LAT1 function and localization

od Rotoli, Bianca Maria, Barilli, Amelia, Ingoglia, Filippo, Visigalli, Rossana, Bianchi, Massimiliano G., Ferrari, Francesca, Martinelli, Diego, Dionisi-Vici, Carlo, Dall’Asta, Valeria
izdano v Orphanet J Rare Dis (2019)

Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neon...

od De Rose, Domenico Umberto, Cairoli, Sara, Dionisi, Marco, Santisi, Alessandra, Massenzi, Luca, Goffredo, Bianca Maria, Dionisi-Vici, Carlo, Dotta, Andrea, Auriti, Cinzia
izdano v Int J Mol Sci (2020)

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

od Olivieri, Giorgia, Martinelli, Diego, Longo, Daniela, Grimaldi, Chiara, Liccardo, Daniela, Di Meo, Ivano, Pietrobattista, Andrea, Sidorina, Anna, Semeraro, Michela, Dionisi-Vici, Carlo
izdano v Orphanet J Rare Dis (2021)