Resultados de búsqueda - Andria, Generoso

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  1. 1
    Impact in Italy of research in pediatrics

    Impact in Italy of research in pediatrics por Andria, Generoso

    Publicado 2014
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  2. 2
    Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

    Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders por Parenti, Giancarlo, Andria, Generoso, Valenzano, Kenneth J

    Publicado 2015
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  3. 3
    S1.2 The pediatrician and the early onset Pompe disease

    S1.2 The pediatrician and the early onset Pompe disease por Fecarotta, Simona, Parenti, Giancarlo, Ascione, Serena, Montefusco, Giuseppe, Andria, Generoso

    Publicado 2011
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  4. 4
    Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

    Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy por Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Terrone, Gaetano, Romano, Alfonso, Andria, Generoso, Del Giudice, Ennio

    Publicado 2012
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  5. 5
    Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

    Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? por Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso

    Publicado 2012
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  6. 6
    S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease

    S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease por Parenti, Giancarlo, Porto, Caterina, Acampora, Emma, Avolio, Valeria, Gagliardo, Cristina, Rosa, Margherita, Fecarotta, Simona, Andria, Generoso

    Publicado 2011
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  7. 7
    Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity

    Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity por Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo

    Publicado 2014
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  8. 8
    Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

    Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome por Granese, Barbara, Scala, Iris, Spatuzza, Carmen, Valentino, Anna, Coletta, Marcella, Vacca, Rosa Anna, De Luca, Pasquale, Andria, Generoso

    Publicado 2013
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  9. 9
    The contribution of the citrate pathway to oxidative stress in Down syndrome

    The contribution of the citrate pathway to oxidative stress in Down syndrome por Convertini, Paolo, Menga, Alessio, Andria, Generoso, Scala, Iris, Santarsiero, Anna, Castiglione Morelli, Maria A., Iacobazzi, Vito, Infantino, Vittoria

    Publicado 2016
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  10. 10
    The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

    The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts por Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo

    Publicado 2009
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  11. 11
    Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

    Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy por Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo

    Publicado 2013
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  12. 12
    Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

    Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene por Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela

    Publicado 2014
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  13. 13
    SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

    SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan por Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola

    Publicado 2014
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  14. 14
    Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

    Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts por Cardone, Monica, Porto, Caterina, Tarallo, Antonietta, Vicinanza, Mariella, Rossi, Barbara, Polishchuk, Elena, Donaudy, Francesca, Andria, Generoso, De Matteis, Maria Antonietta, Parenti, Giancarlo

    Publicado 2008
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  15. 15
    Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

    Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Fun... por Melis, Daniela, Carbone, Fortunata, Minopoli, Giorgia, La Rocca, Claudia, Perna, Francesco, De Rosa, Veronica, Galgani, Mario, Andria, Generoso, Parenti, Giancarlo, Matarese, Giuseppe

    Publicado 2017
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  16. 16
    New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

    New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela

    Publicado 2016
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  17. 17
    Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

    Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine por Porto, Caterina, Ferrara, Maria C, Meli, Massimiliano, Acampora, Emma, Avolio, Valeria, Rosa, Margherita, Cobucci-Ponzano, Beatrice, Colombo, Giorgio, Moracci, Marco, Andria, Generoso, Parenti, Giancarlo

    Publicado 2012
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  18. 18
    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ(5)-Desaturase

    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ(5)-Desaturase por Brunetti-Pierri, Nicola, Corso, Gaetano, Rossi, Massimiliano, Ferrari, Paola, Balli, Fiorella, Rivasi, Francesco, Annunziata, Ida, Ballabio, Andrea, Russo, Antonio Dello, Andria, Generoso, Parenti, Giancarlo

    Publicado 2002
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  19. 19
    Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

    Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib por Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo

    Publicado 2015
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  20. 20
    The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

    The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach por Catanzano, Francesca, Ombrone, Daniela, Di Stefano, Cristina, Rossi, Anna, Nosari, Norberto, Scolamiero, Emanuela, Tandurella, Igor, Frisso, Giulia, Parenti, Giancarlo, Ruoppolo, Margherita, Andria, Generoso, Salvatore, Francesco

    Publicado 2010
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