Safety of vaccines administration in hereditary fructose intolerance

by Arianna Maiorana, Antonella Sabia, Tiziana Corsetti, Carlo Dionisi-Vici
Published 2020-10-01

Renal Mitochondrial Cytopathies

by Francesco Emma, Giovanni Montini, Leonardo Salviati, Carlo Dionisi-Vici
Published 2011-01-01

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...

by Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
Published 2019-02-01

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

by Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici
Published 2016-03-01

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

by Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Published 2019-08-01

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

by Anna Pastore, Anna Alisi, Gianna di Giovamberardino, Annalisa Crudele, Sara Ceccarelli, Nadia Panera, Carlo Dionisi-Vici, Valerio Nobili
Published 2014-11-01

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

by Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
Published 2021-01-01

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...

by Domenico Umberto De Rose, Sara Cairoli, Marco Dionisi, Alessandra Santisi, Luca Massenzi, Bianca Maria Goffredo, Carlo Dionisi-Vici, Andrea Dotta, Cinzia Auriti
Published 2020-08-01

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

by Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta
Published 2019-03-01

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

by Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Published 2021-05-01

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

by Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Published 2019-08-01

U-IMD: the first Unified European registry for inherited metabolic diseases

by Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Published 2021-02-01

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

by Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi
Published 2020-01-01

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

by Antonio Napolitano, Daniela Longo, Martina Lucignani, Luca Pasquini, Maria Camilla Rossi-Espagnet, Giulia Lucignani, Arianna Maiorana, Domenica Elia, Paola De Liso, Carlo Dionisi-Vici, Raffaella Cusmai
Published 2020-12-01

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

by Ilaria Cicalini, Damiana Pieragostino, Cristiano Rizzo, Sara Verrocchio, Daniela Semeraro, Mirco Zucchelli, Silvia Di Michele, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Ines Bucci, Claudia Rossi
Published 2021-02-01

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy

by Claudia Rossi, Ilaria Cicalini, Cristiano Rizzo, Mirco Zucchelli, Ada Consalvo, Silvia Valentinuzzi, Daniela Semeraro, Giorgia Gasparroni, Patrizia Brindisino, Diego Gazzolo, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Damiana Pieragostino
Published 2020-05-01

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

by Chiara Montanari, Sara Parolisi, Elisa Borghi, Lorenza Putignani, Giulia Bassanini, Juri Zuvadelli, Cristina Bonfanti, Albina Tummolo, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria Teresa Carbone, Elvira Verduci, Elvira Verduci
Published 2021-09-01

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

by Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst
Published 2019-01-01