Influence of sport mouthguards on the ecological factors of the children oral cavity

por D’Ercole, Simonetta, Martinelli, Diego, Tripodi, Domenico
Publicado 2014

The effect of swimming on oral health status: competitive versus non-competitive athletes

por D’ERCOLE, Simonetta, TIERI, Marco, MARTINELLI, Diego, TRIPODI, Domenico
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

Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria

por Rivalta, Beatrice, Torraco, Alessandra, Martinelli, Diego, Luciani, Matteo, Carrozzo, Rosalba, Finocchi, Andrea
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

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

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

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

por Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino
Publicado 2022

Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes

por Diamanti, Antonella, Calvitti, Giacomo, Martinelli, Diego, Santariga, Emma, Capriati, Teresa, Bolasco, Giulia, Iughetti, Lorenzo, Pujia, Arturo, Knafelz, Daniela, Maggiore, Giuseppe
Publicado 2021

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

por Baban, Anwar, Lodato, Valentina, Parlapiano, Giovanni, di Mambro, Corrado, Adorisio, Rachele, Bertini, Enrico Silvio, Dionisi-Vici, Carlo, Drago, Fabrizio, Martinelli, Diego
Publicado 2021

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

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

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

por Diociaiuti, Andrea, Martinelli, Diego, Nicita, Francesco, Cesario, Claudia, Pisaneschi, Elisa, Macchiaiolo, Marina, Rossi, Sabrina, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Publicado 2021

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

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

Atypical Presentation of Renal Angiomyolipomas in a Child with Tuberous Sclerosis Complex

por Ferrara, Pietro, Romano, Valerio, Gatto, Antonio, Vitelli, Ottavio, Liberatore, Pio, Passera, Sofia, Bottaro, Giorgia, del Bufalo, Francesca, Martinelli, Diego, Del Re, Maria, Battaglia, Domenica
Publicado 2011

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

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

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

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

A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report

por Lucignani, Giulia, Vattermoli, Leonardo, Rossi-Espagnet, Maria Camilla, Guarnera, Alessia, Napolitano, Antonio, Figà-Talamanca, Lorenzo, Campi, Francesca, Ronci, Sara, Dionisi Vici, Carlo, Martinelli, Diego, Gandolfo, Carlo, Longo, Daniela
Publicado 2023

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

por Haddad, Marie Reine, Choi, Eun-Young, Zerfas, Patricia M., Yi, Ling, Martinelli, Diego, Sullivan, Patricia, Goldstein, David S., Centeno, Jose A., Brinster, Lauren R., Ralle, Martina, Kaler, Stephen G.
Publicado 2018

Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management

por Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián
Publicado 2022

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

por Bianchi, Marzia, Rizza, Teresa, Verrigni, Daniela, Martinelli, Diego, Tozzi, Giulia, Torraco, Alessandra, Piemonte, Fiorella, Dionisi-Vici, Carlo, Nobili, Valerio, Francalanci, Paola, Boldrini, Renata, Callea, Francesco, Santorelli, Filippo Maria, Bertini, Enrico, Carrozzo, Rosalba
Publicado 2011