Hasil Pencarian - Elena Procopio

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  1. 1
    Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy

    Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy oleh Flavia Tubili, Francesca Pochiero, Maria Rosaria Curcio, Elena Procopio

    Diterbitkan 2023-01-01
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  2. 2
    DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings

    DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings oleh Edoardo Fino, Alessandro Barbato, Giusi M. Scaturro, Elena Procopio, Simona Balestrini

    Diterbitkan 2023-12-01
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  3. 3
    Communicating a Positive Result at Newborn Screening and Parental Distress

    Communicating a Positive Result at Newborn Screening and Parental Distress oleh Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin, Giancarlo la Marca

    Diterbitkan 2023-07-01
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  4. 4
    Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

    Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy oleh Agata Fiumara, Annamaria Sapuppo, Serena Gasperini, Viola Crescitelli, Michele Sacchini, Elena Procopio, Vincenza Gragnaniello, Alberto Burlina

    Diterbitkan 2024-09-01
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  5. 5
    Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

    Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders oleh Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati

    Diterbitkan 2020-07-01
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  6. 6
    Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy

    Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy oleh Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, Alberto Burlina

    Diterbitkan 2024-10-01
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  7. 7
    SARS-CoV-2 infection in a patient with propionic acidemia

    SARS-CoV-2 infection in a patient with propionic acidemia oleh Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone

    Diterbitkan 2020-10-01
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  8. 8
    Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

    Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report oleh Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

    Diterbitkan 2021-01-01
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  9. 9
    Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

    Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature oleh Francesca Miselli, Alice Brambilla, Giovanni Battista Calabri, Silvia Favilli, Maria Chiara Sanvito, Luca Ragni, Francesco Torcetta, Katia Rossi, Maria Alice Donati, Elena Procopio

    Diterbitkan 2021-03-01
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  10. 10
    Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort

    Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort oleh Silvia Passantino, Serena Chiellino, Francesca Girolami, Mattia Zampieri, Giovanni Battista Calabri, Gaia Spaziani, Elena Bennati, Giulio Porcedda, Elena Procopio, Iacopo Olivotto, Silvia Favilli

    Diterbitkan 2023-12-01
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  11. 11
    Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

    Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector oleh Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone

    Diterbitkan 2023-12-01
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  12. 12
    Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

    Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector oleh Rodolfo Tonin, Federica Feo, Silvia Falliano, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Vittorio Sciruicchio, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone

    Diterbitkan 2024-06-01
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  13. 13
    Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

    Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature oleh Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

    Diterbitkan 2024-10-01
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  14. 14
    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases oleh Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni

    Diterbitkan 2021-10-01
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  15. 15
    Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

    Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study. oleh Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D'Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Maria Grazia D'Angelo, Enrico Bertini, Eugenio Mercuri

    Diterbitkan 2016-01-01
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  16. 16
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics oleh Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

    Diterbitkan 2022-04-01
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