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

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

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

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

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

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

por Maiorana, Arianna, Caviglia, Stefania, Greco, Benedetta, Alfieri, Paolo, Cumbo, Francesca, Campana, Carmen, Bernabei, Silvia Maria, Cusmai, Raffaella, Mosca, Antonella, Dionisi-Vici, Carlo
Publicado 2021

Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for...

por Maines, Evelina, Moretti, Michele, Vitturi, Nicola, Gugelmo, Giorgia, Fasan, Ilaria, Lenzini, Livia, Piccoli, Giovanni, Gragnaniello, Vincenza, Maiorana, Arianna, Soffiati, Massimo, Burlina, Alberto, Franceschi, Roberto
Publicado 2023

The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy

por Napolitano, Antonio, Longo, Daniela, Lucignani, Martina, Pasquini, Luca, Rossi-Espagnet, Maria Camilla, Lucignani, Giulia, Maiorana, Arianna, Elia, Domenica, De Liso, Paola, Dionisi-Vici, Carlo, Cusmai, Raffaella
Publicado 2020

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation: K(ATP) Channel Inactivation Mechanism an...

por Loechner, Karen J., Akrouh, Alejandro, Kurata, Harley T., Dionisi-Vici, Carlo, Maiorana, Arianna, Pizzoferro, Milena, Rufini, Vittoria, de Ville de Goyet, Jean, Colombo, Carlo, Barbetti, Fabrizio, Koster, Joseph C., Nichols, Colin G.
Publicado 2011

Pancreatic beta-cell specific BAG3 knockout results in chronic hyperinsulinemia inducing insulin resistance

por Damiani, Verena, Lamolinara, Alessia, Cicalini, Ilaria, Cufaro, Maria Concetta, Del Pizzo, Francesco, Di Marco, Federica, Del Boccio, Piero, Dufrusine, Beatrice, Hahne, Michael, Lattanzio, Rossano, Pieragostino, Damiana, Iezzi, Manuela, Federici, Massimo, Turco, Maria Caterina, Maiorana, Arianna, Dionisi-Vici, Carlo, De Laurenzi, Vincenzo
Publicado 2023

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

por Rossi, Alessandro, Hoogeveen, Irene J., Bastek, Vanessa B., de Boer, Foekje, Montanari, Chiara, Meyer, Uta, Maiorana, Arianna, Bordugo, Andrea, Dianin, Alice, Campana, Carmen, Rigoldi, Miriam, Kishnani, Priya S., Pendyal, Surekha, Strisciuglio, Pietro, Gasperini, Serena, Parenti, Giancarlo, Parini, Rossella, Paci, Sabrina, Melis, Daniela, Derks, Terry G. J.
Publicado 2020

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado 2014