Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implicatio...

por Maiorana, Arianna, Tagliaferri, Francesco, Dionisi-Vici, Carlo
Publicado 2023

Renal Mitochondrial Cytopathies

por Emma, Francesco, Montini, Giovanni, Salviati, Leonardo, Dionisi-Vici, Carlo
Publicado 2011

Safety of vaccines administration in hereditary fructose intolerance

por Maiorana, Arianna, Sabia, Antonella, Corsetti, Tiziana, Dionisi-Vici, Carlo
Publicado 2020

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

por Massese, Miriam, Tagliaferri, Francesco, Dionisi-Vici, Carlo, Maiorana, Arianna
Publicado 2022

Hypoglycaemia Metabolic Gene Panel Testing

por Maiorana, Arianna, Lepri, Francesca Romana, Novelli, Antonio, Dionisi-Vici, Carlo
Publicado 2022

Vici syndrome: a review

por Byrne, Susan, Dionisi-Vici, Carlo, Smith, Luke, Gautel, Mathias, Jungbluth, Heinz
Publicado 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...

por Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco
Publicado 2019

Differential diagnosis of food protein-induced enterocolitis syndrome

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

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

por Santoro, Lucia, Pjetraj, Dorina, Velmishi, Virtut, Campana, Carmen, Catassi, Carlo, Dionisi-Vici, Carlo, Maiorana, Arianna
Publicado 2022

Use of Antibiotics in Preterm Newborns

por Simeoli, Raffaele, Cairoli, Sara, Decembrino, Nunzia, Campi, Francesca, Dionisi Vici, Carlo, Corona, Alberto, Goffredo, Bianca Maria
Publicado 2022

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

por Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo
Publicado 2015

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

por Maiorana, Arianna, Manganozzi, Lucilla, Barbetti, Fabrizio, Bernabei, Silvia, Gallo, Giorgia, Cusmai, Raffaella, Caviglia, Stefania, Dionisi-Vici, Carlo
Publicado 2015

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

por Tagliaferri, Francesco, Massese, Miriam, Russo, Luisa, Commone, Anna, Gasperini, Serena, Pretese, Roberta, Dionisi-Vici, Carlo, Maiorana, Arianna
Publicado 2022

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

por Pastore, Anna, Alisi, Anna, di Giovamberardino, Gianna, Crudele, Annalisa, Ceccarelli, Sara, Panera, Nadia, Dionisi-Vici, Carlo, Nobili, Valerio
Publicado 2014

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

por Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
Publicado 2019

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

por Galeotti, Angela, De Rosa, Sara, Uomo, Roberto, Dionisi-Vici, Carlo, Deodato, Federica, Taurisano, Roberta, Olivieri, Giorgia, Festa, Paola
Publicado 2020

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

por Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, de Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
Publicado 2020

Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants

por Ferretti, Alessandro, Simeoli, Raffaele, Cairoli, Sara, Pietrafusa, Nicola, Trivisano, Marina, Dionisi Vici, Carlo, Specchio, Nicola, Goffredo, Bianca Maria
Publicado 2022

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

por Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna
Publicado 2019

Case report: Pylorus-preserving pancreatoduodenectomy for focal congenital hyperinsulinism in a 5-month-old baby

por Spagnoletti, Gionata, Larghi Laureiro, Zoe, Maria Fratti, Alberto, Maiorana, Arianna, Garganese, Maria Carmen, Pizzoferro, Milena, Dionisi-Vici, Carlo, Spada, Marco
Publicado 2023