Результати пошуку - Diego Martinelli

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  1. 1
    Cobalamin C defect: natural history, pathophysiology, and treatment

    Cobalamin C defect: natural history, pathophysiology, and treatment за авторством Diego Martinelli, Federica Deodato, Carlo Dionisi‐Vici

    Опубліковано 2010
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  2. 2
    The effect of swimming on oral health status: competitive versus non-competitive athletes

    The effect of swimming on oral health status: competitive versus non-competitive athletes за авторством Simonetta D’Ercole, M Tieri, Diego Martinelli, Domenico Tripodi

    Опубліковано 2016
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  3. 3
    Extracorporeal Blood Purification Therapy to Deal a Deferasirox Induced Life‐Threatening Hepatic Encephalopathy in a Septic Child With Sickle‐Cell Disease: A Case Report

    Extracorporeal Blood Purification Therapy to Deal a Deferasirox Induced Life‐Threatening Hepatic Encephalopathy in a Septic Child With Sickle‐Cell Disease: A Case Report за авторством Emanuele Rossetti, Andrea Cappoli, Raffaella Labbadia, Giuseppe Leone, Fabrizio Chiusolo, Francesca Tortora, Diego Martinelli, Marco Marano

    Опубліковано 2025
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  4. 4
    The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

    The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome за авторством Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi‐Vici

    Опубліковано 2015
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  5. 5
    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data за авторством Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Koning, Carlo Dionisi‐Vici, Monique Williams

    Опубліковано 2020
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  6. 6
    Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

    Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB за авторством Nunziata Maio, Daniele Ghezzi, Daniela Verrigni, Teresa Rizza, Enrico Bertini, Diego Martinelli, Massimo Zeviani, Anamika Singh, Rosalba Carrozzo, Tracey A. Rouault

    Опубліковано 2015
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  7. 7
    Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

    Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study за авторством Luca, Pasquini, Alessia, Guarnera, Camilla, Rossi-Espagnet Maria, Antonio, Napolitano, Diego, Martinelli, Federica, Deodato, Daria, Diodato, Rosalba, Carrozzo, Carlo, Dionisi-Vici, Daniela, Longo

    Опубліковано 2020
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  8. 8
    Suggested guidelines for the diagnosis and management of urea cycle disorders

    Suggested guidelines for the diagnosis and management of urea cycle disorders за авторством Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi‐Vici

    Опубліковано 2012
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  9. 9
    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy за авторством Diego Martinelli, Lorena Travaglini, Christian A. Drouin, Irène Ceballos-Picot, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo, Stefania Petrini, Pascale de Lonlay, Maya El Hachem, Laurence Hubert, Alexandre Montpetit, Giuliano Torre, Carlo Dionisi‐Vici

    Опубліковано 2013
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  10. 10
    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease за авторством Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D’Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi‐Vici, Rosalba Carrozzo, Enrico Bertini

    Опубліковано 2015
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  11. 11
    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study за авторством Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

    Опубліковано 2024
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  12. 12
    Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

    Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia за авторством Irini Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra Pass, Jack Gagné, Camryn Hall, Susan Ferry, Carol Van Ryzin, Jennifer L. Sloan, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici, Charles P. Venditti

    Опубліковано 2023
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  13. 13
    Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

    Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations за авторством Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack, Truus E. M. Abbink, Diego Martinelli, Carola G.M. van Berkel, Annette Bley, Luísa Diogo, Eugênio Grillo, Johann te Water Naudé, Tim M. Strom, Enrico Bertini, Holger Prokisch, Marjo S. van der Knaap, Massimo Zeviani

    Опубліковано 2012
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  14. 14
    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression за авторством Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava

    Опубліковано 2011
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  15. 15
    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision за авторством Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi‐Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grünewald, Göknur Haliloğlu, Michel Hochuli, Tomáš Honzík, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl‐Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner

    Опубліковано 2021
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  16. 16
    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy за авторством Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi‐Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini

    Опубліковано 2016
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  17. 17
    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia за авторством Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

    Опубліковано 2014
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  18. 18
    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy

    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy за авторством Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco, Domenica Battaglia, Giulia Trani, Gianmarco Versienti, Silvia Marchet, Alessandra Torraco, Teresa Rizza, Margherita Verardo, Adele D’Amico, Daria Diodato, Isabella Moroni, Costanza Lamperti, Stefania Petrini, Maurizio Moggio, P Goffrini, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini

    Опубліковано 2019
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  19. 19
    Clinical presentation and outcome in a series of 88 patients with the cblC defect

    Clinical presentation and outcome in a series of 88 patients with the cblC defect за авторством Sabine Fischer, Martina Huemer, Matthias R. Baumgartner, Federica Deodato, Diana Ballhausen, Avihu Boneh, Alberto Burlina, R. Cerone, Paula Garcia, Gülden Gökçay, Stephanie Grünewald, Johannes Häberle, Jaak Jaeken, David Ketteridge, Martin Lindner, Hanna Mandel, Diego Martinelli, Esmeralda Martins, Karl Otfried Schwab, Sarah C. Gruenert, Bernd Schwahn, L. Sztriha, Maren Tomaske, Friedrich K. Trefz, Laura Vilarinho, David S. Rosenblatt, Brian Fowler, Carlo Dionisi‐Vici

    Опубліковано 2014
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  20. 20
    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency за авторством Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura S. Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl‐Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Plácido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

    Опубліковано 2015
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