Výsledky vyhledávání - Martinelli, Diego
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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... Autor Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco
Vydáno 2019Text -
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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia Autor Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
Vydáno 2019Text -
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Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data Autor Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, de Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
Vydáno 2020Text -
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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita Autor Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino
Vydáno 2022Text -
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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome Autor Martinelli, Diego, Fiermonte, Giuseppe, Häberle, Johannes, Boenzi, Sara, Goffredo, Bianca Maria, Travaglini, Lorena, Agolini, Emanuele, Porcelli, Vito, Dionisi-Vici, Carlo
Vydáno 2020Text -
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Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes Autor Diamanti, Antonella, Calvitti, Giacomo, Martinelli, Diego, Santariga, Emma, Capriati, Teresa, Bolasco, Giulia, Iughetti, Lorenzo, Pujia, Arturo, Knafelz, Daniela, Maggiore, Giuseppe
Vydáno 2021Text -
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Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children Autor Baban, Anwar, Lodato, Valentina, Parlapiano, Giovanni, di Mambro, Corrado, Adorisio, Rachele, Bertini, Enrico Silvio, Dionisi-Vici, Carlo, Drago, Fabrizio, Martinelli, Diego
Vydáno 2021Text -
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Analysis of LPI-causing mutations on y+LAT1 function and localization Autor Rotoli, Bianca Maria, Barilli, Amelia, Ingoglia, Filippo, Visigalli, Rossana, Bianchi, Massimiliano G., Ferrari, Francesca, Martinelli, Diego, Dionisi-Vici, Carlo, Dall’Asta, Valeria
Vydáno 2019Text -
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Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization Autor Diociaiuti, Andrea, Martinelli, Diego, Nicita, Francesco, Cesario, Claudia, Pisaneschi, Elisa, Macchiaiolo, Marina, Rossi, Sabrina, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Vydáno 2021Text -
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Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient Autor Olivieri, Giorgia, Martinelli, Diego, Longo, Daniela, Grimaldi, Chiara, Liccardo, Daniela, Di Meo, Ivano, Pietrobattista, Andrea, Sidorina, Anna, Semeraro, Michela, Dionisi-Vici, Carlo
Vydáno 2021Text -
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Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study Autor Pasquini, Luca, Guarnera, Alessia, Rossi-Espagnet, Maria Camilla, Napolitano, Antonio, Martinelli, Diego, Deodato, Federica, Diodato, Daria, Carrozzo, Rosalba, Dionisi-Vici, Carlo, Longo, Daniela
Vydáno 2020Text -
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Atypical Presentation of Renal Angiomyolipomas in a Child with Tuberous Sclerosis Complex Autor Ferrara, Pietro, Romano, Valerio, Gatto, Antonio, Vitelli, Ottavio, Liberatore, Pio, Passera, Sofia, Bottaro, Giorgia, del Bufalo, Francesca, Martinelli, Diego, Del Re, Maria, Battaglia, Domenica
Vydáno 2011Text -
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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9 Autor Magini, Pamela, Marco‐Marin, Clara, Escamilla‐Honrubia, Juan M., Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele
Vydáno 2019Text