The rapidly evolving view of lysosomal storage diseases by Giancarlo Parenti, Diego L Medina, Andrea Ballabio

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Pathogenesis of Mucopolysaccharidoses, an Update by Simona Fecarotta, Antonietta Tarallo, Carla Damiano, Nadia Minopoli, Giancarlo Parenti

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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment by Mariangela Succoio, Rosa Sacchettini, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo

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An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use by Alberto Casertano, Alessandro Rossi, Alessandro Rossi, Simona Fecarotta, Francesco Maria Rosanio, Cristina Moracas, Francesca Di Candia, Giancarlo Parenti, Giancarlo Parenti, Adriana Franzese, Enza Mozzillo

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Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria by Iris Scala, Maria Pia Riccio, Maria Marino, Carmela Bravaccio, Giancarlo Parenti, Pietro Strisciuglio

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Respiratory manifestations in patients with inherited metabolic diseases by Francesca Santamaria, Silvia Montella, Virginia Mirra, Sara De Stefano, Generoso Andria, Giancarlo Parenti

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Postbiotic Preparation of <i>Lacticaseibacillus rhamnosus GG</i> against Diarrhea and Oxidative Stress Induced by Spike Protein of SARS-CoV-2 in Human Enterocytes by Marco Poeta, Valentina Cioffi, Antonietta Tarallo, Carla Damiano, Andrea Lo Vecchio, Eugenia Bruzzese, Giancarlo Parenti, Alfredo Guarino

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Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease by Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher

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Molecular basis and clinical management of Pompe disease by Giancarlo Parenti, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, Generoso Andria

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Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria by Iris Scala, Daniela Concolino, Anna Nastasi, Giulia Esposito, Daniela Crisci, Simona Sestito, Stefania Ferraro, Lucia Albano, Margherita Ruoppolo, Giancarlo Parenti, Pietro Strisciuglio

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Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase by Roberta Iacono, Nadia Minopoli, Maria Carmina Ferrara, Antonietta Tarallo, Carla Damiano, Caterina Porto, Sandra Strollo, Véronique Roig-Zamboni, Gianfranco Peluso, Gerlind Sulzenbacher, Beatrice Cobucci-Ponzano, Giancarlo Parenti, Marco Moracci

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AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease by Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti

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Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease by Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg, W. W. M. Pim Pijnappel

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Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy by Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso

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Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues by Alessandro Rossi, Mariagrazia Turturo, Lucia Albano, Simona Fecarotta, Ferdinando Barretta, Ferdinando Barretta, Daniela Crisci, Giovanna Gallo, Rosa Perfetto, Fabiana Uomo, Fabiana Vallone, Guglielmo Villani, Guglielmo Villani, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Giulia Frisso, Margherita Ruoppolo, Margherita Ruoppolo

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Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease by Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti

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Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases. by Maria Paola Belfiore, Francesca Iacobellis, Emma Acampora, Martina Caiazza, Marta Rubino, Emanuele Monda, Maria Rosaria Magaldi, Antonietta Tarallo, Marcella Sasso, Valeria De Pasquale, Roberto Grassi, Salvatore Cappabianca, Paolo Calabrò, Simona Fecarotta, Salvatore Esposito, Giovanni Esposito, Antonio Pisani, Luigi Michele Pavone, Giancarlo Parenti, Giuseppe Limongelli

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Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation by Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio

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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome by Irene Sambri, Marco Ferniani, Giulia Campostrini, Marialuisa Testa, Viviana Meraviglia, Mariana E. G. de Araujo, Ladislav Dokládal, Claudia Vilardo, Jlenia Monfregola, Nicolina Zampelli, Francesca Del Vecchio Blanco, Annalaura Torella, Carolina Ruosi, Simona Fecarotta, Giancarlo Parenti, Leopoldo Staiano, Milena Bellin, Lukas A. Huber, Claudio De Virgilio, Francesco Trepiccione, Vincenzo Nigro, Andrea Ballabio

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

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