Ohcanbohtosat - Andria, Generoso

Aiddostahte ozu
  1. 1
    Impact in Italy of research in pediatrics

    Impact in Italy of research in pediatrics Dahkki Andria, Generoso

    Almmustuhtton 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 Dahkki Parenti, Giancarlo, Andria, Generoso, Valenzano, Kenneth J

    Almmustuhtton 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 Dahkki Fecarotta, Simona, Parenti, Giancarlo, Ascione, Serena, Montefusco, Giuseppe, Andria, Generoso

    Almmustuhtton 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 Dahkki Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Terrone, Gaetano, Romano, Alfonso, Andria, Generoso, Del Giudice, Ennio

    Almmustuhtton 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? Dahkki Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso

    Almmustuhtton 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 Dahkki Parenti, Giancarlo, Porto, Caterina, Acampora, Emma, Avolio, Valeria, Gagliardo, Cristina, Rosa, Margherita, Fecarotta, Simona, Andria, Generoso

    Almmustuhtton 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 Dahkki Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki Granese, Barbara, Scala, Iris, Spatuzza, Carmen, Valentino, Anna, Coletta, Marcella, Vacca, Rosa Anna, De Luca, Pasquale, Andria, Generoso

    Almmustuhtton 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 Dahkki Convertini, Paolo, Menga, Alessio, Andria, Generoso, Scala, Iris, Santarsiero, Anna, Castiglione Morelli, Maria A., Iacobazzi, Vito, Infantino, Vittoria

    Almmustuhtton 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 Dahkki Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela

    Almmustuhtton 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 Dahkki Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola

    Almmustuhtton 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 Dahkki Cardone, Monica, Porto, Caterina, Tarallo, Antonietta, Vicinanza, Mariella, Rossi, Barbara, Polishchuk, Elena, Donaudy, Francesca, Andria, Generoso, De Matteis, Maria Antonietta, Parenti, Giancarlo

    Almmustuhtton 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... Dahkki Melis, Daniela, Carbone, Fortunata, Minopoli, Giorgia, La Rocca, Claudia, Perna, Francesco, De Rosa, Veronica, Galgani, Mario, Andria, Generoso, Parenti, Giancarlo, Matarese, Giuseppe

    Almmustuhtton 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 Dahkki Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela

    Almmustuhtton 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 Dahkki Porto, Caterina, Ferrara, Maria C, Meli, Massimiliano, Acampora, Emma, Avolio, Valeria, Rosa, Margherita, Cobucci-Ponzano, Beatrice, Colombo, Giorgio, Moracci, Marco, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki Brunetti-Pierri, Nicola, Corso, Gaetano, Rossi, Massimiliano, Ferrari, Paola, Balli, Fiorella, Rivasi, Francesco, Annunziata, Ida, Ballabio, Andrea, Russo, Antonio Dello, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo

    Almmustuhtton 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 Dahkki 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

    Almmustuhtton 2010
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