Resultados da pesquisa - Alice Donati

Refinar resultados
  1. 1
    Newborn screening in mucopolysaccharidoses

    Newborn screening in mucopolysaccharidoses Por Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

    Publicado em 2018
    Obter o texto integral Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  2. 2
    Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

    Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn... Por Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Marzia Innocenti, Maria Alice Donati, Enrico Zammarchi

    Publicado em 2007
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  3. 3
    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A

    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A Por Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani

    Publicado em 2005
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  4. 4
    Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

    Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy Por Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, Franco Carrara, Laura Farina, Elena Procopio, Alice Donati, Graziella Uziel, Iliana Ferrero, Massimo Zeviani

    Publicado em 2007
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  5. 5
    Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

    Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase Por Antonella Spinazzola, Ramón Martí, Ichizo Nishino, Antoni L. Andreu, Ali Naini, Saba Tadesse, Ivana Pela, Enrico Zammarchi, Maria Alice Donati, Juan Oliver, Michio Hirano

    Publicado em 2002
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  6. 6
    Galactosialidosis: review and analysis of CTSA gene mutations

    Galactosialidosis: review and analysis of CTSA gene mutations Por Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo, Amelia Morrone

    Publicado em 2013
    Obter o texto integral Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  7. 7
    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease Por Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis, Maria Rosaria Tuzzi, Ida Annunziata, Germana Meroni, Caterina Porto, Francesca Donaudy, Barbara Rossi, Massimiliano Rossi, Mirella Filocamo, Alice Donati, Bruno Bembi, Andrea Ballabio, Generoso Andria

    Publicado em 2007
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  8. 8
    Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

    Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy Por Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, Giovanna Lucchini, Fabio Pavan, Francesca Santus, Rossella Parini, Maria Alice Donati, Maria Sofia Cotelli, Valentina Vielmi, Alice Todeschini, Francesco Canonico, Giuliano Tomelleri, Alessandro Padovani, Attilio Rovelli

    Publicado em 2012
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  9. 9
    The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

    The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies Por Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon, Emiel A. M. Janssen, Silvia Bione, Pieter A. Bolhuis, P. G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo

    Publicado em 1997
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  10. 10
    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome Por Caterina Garone, Aaron R. D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo‐Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E. Calvo, Vamsi K. Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  11. 11
    <i>ALDH18A1</i>gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

    <i>ALDH18A1</i>gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism Por Emanuele Panza, Juan Manuel Escamilla, Clara Marco-Marı́n, Nadine Gougeard, Giuseppe De Michele, Vincenzo Brescia Morra, Rocco Liguori, Leonardo Salviati, Maria Alice Donati, Roberto Cusano, Tommaso Pippucci, Roberto Ravazzolo, Andrea H. Németh, Sarah Smithson, Sally Davies, Jane A. Hurst, Domenico Bordo, Vicente Rubio, Marco Seri

    Publicado em 2015
    Obter o texto integral Obter o texto integral
    Carta
    Adic. favoritos
    Na minha lista:
  12. 12
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy Por Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi

    Publicado em 2018
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  13. 13
    A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

    A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy Por Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, Barbara Rossi, Serena Ascione, Maria Alice Donati, Lucia Morandi, Sabrina Ravaglia, Anna Pichiecchio, Daniela Ombrone, Michele Sacchini, Maria Barbara Pasanisi, Paola De Filippi, Cesare Danesino, Roberto Della Casa, Alfonso Romano, Carmine Mollica, Margherita Rosa, Teresa Agovino, Edoardo Nusco, Caterina Porto, Generoso Andria

    Publicado em 2014
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  14. 14
    Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

    Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years Por C. Angelini, Claudio Semplicini, Sabrina Ravaglia, Bruno Bembi, Serenella Servidei, Elena Pegoraro, Maurizio Moggio, Massimiliano Filosto, Elisabetta Sette, Grazia Crescimanno, Paola Tonin, Rossella Parini, Lucia Morandi, Maria Giovanna Marrosu, Giuseppe Greco, Olimpia Musumeci, Giuseppe Di Iorio, Gabriele Siciliano, Maria Alice Donati, Francesca Carubbi, Mario Ermani, Tiziana Mongini, António Toscano

    Publicado em 2011
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  15. 15
    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia Por Alessia Nasca, C. Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Ólafur Þ. Magnússon, Anikó Gál, David T. Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sárközy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, Gyӧrgy Hajnόczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  16. 16
    Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

    Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening Por Marika Pane, Maria Alice Donati, Costanza Cutrona, Roberto De Sanctis, Matteo Pirinu, Giorgia Coratti, Martina Ricci, Concetta Palermo, Beatrice Berti, Daniela Leone, Chiara Ticci, Michele Sacchini, Margherita Cerboneschi, Anna Capasso, Gianpaolo Cicala, Maria Carmela Pera, Chiara Bravetti, Emanuela Abiusi, Alessandro Vaisfeld, Giovanni Vento, Francesco Danilo Tiziano, Eugenio Mercuri

    Publicado em 2022
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  17. 17
    SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

    SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency Por Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Md. Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro Leonardo Pierri, Luna Laera, Francesco M. Lasorsa, Eleonora Paradies, Isabella Pisano, C Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria Alice Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna Grassi

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  18. 18
    Next-generation sequencing approach to hyperCKemia

    Next-generation sequencing approach to hyperCKemia Por Anna Rubegni, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci, Maria Alice Donati, Maria Teresa Dotti, Antonio Federico, Fabio Giannini, Salvatore Grosso, Renzo Guerrini, Sara Lenzi, Maria Antonietta Maioli, Federico Melani, Eugenio Mercuri, Michele Sacchini, Simona Salvatore, Gabriele Siciliano, Deborah Tolomeo, Paola Tonin, Nila Volpi, Filippo M. Santorelli, Denise Cassandrini

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  19. 19
    Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

    Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 Por Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D’Amico, Claudio Bruno, Gian Luca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  20. 20
    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study Por Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado, Aline Cano, María L. Couce, Mireia del Toro, Maria Alice Donati, Ángeles García‐Cazorla, David Gil, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Çöker, Rosa A. Lama‐More, Mercedes Martínez‐Pardo Casanova, Á. Molina, Samia Pichard, Francesco Papadia, Patricia Roselló, Céline Plisson, Jeannie Le Mouhaër, Anupam Chakrapani

    Publicado em 2016
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:

Ferramentas de pesquisa: