检索结果 - Giancarlo Parenti

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  1. 1
    Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

    Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics 由 Giancarlo Parenti

    出版 2009
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  2. 2
    Lysosomal Storage Diseases: From Pathophysiology to Therapy

    Lysosomal Storage Diseases: From Pathophysiology to Therapy 由 Giancarlo Parenti, Generoso Andria, Andrea Ballabio

    出版 2015
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  3. 3
    New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

    New treatments for the mucopolysaccharidoses: from pathophysiology to therapy 由 Simona Fecarotta, Serena Gasperini, Giancarlo Parenti

    出版 2018
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  4. 4
    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 由 Giancarlo Parenti, Generoso Andria, Kenneth J. Valenzano

    出版 2015
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  5. 5
    The rapidly evolving view of lysosomal storage diseases

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

    出版 2021
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  6. 6
    New strategies for the treatment of lysosomal storage diseases (Review)

    New strategies for the treatment of lysosomal storage diseases (Review) 由 Giancarlo Parenti, Claudio Pignata, Pietro Vajro, Mariacarolina Salerno

    出版 2012
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  7. 7
    Pathogenesis of Mucopolysaccharidoses, an Update

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

    出版 2020
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  8. 8
    Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

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

    出版 2022
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  9. 9
    Hyponatremia, IL-6, and SARS-CoV-2 (COVID-19) infection: may all fit together?

    Hyponatremia, IL-6, and SARS-CoV-2 (COVID-19) infection: may all fit together? 由 A. Berni, Danilo Malandrino, Giancarlo Parenti, Mario Maggi, Loredana Poggesi, Alessandro Peri

    出版 2020
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  10. 10
    Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

    Genetic screening for pheochromocytoma: should SDHC gene analysis be included? 由 Massimo Mannelli, Tonino Ercolino, Valentino Giaché, Lisa Simi, Calogero Lino Cirami, Giancarlo Parenti

    出版 2007
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  11. 11
    The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases

    The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases 由 Maria Pia Cosma, Stefano Pepe, Ida Annunziata, Robert F. Newbold, Markus Grompe, Giancarlo Parenti, Andrea Ballabio

    出版 2003
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  12. 12
    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 由 Caterina Porto, Monica Cardone, Federica Fontana, Barbara Rossi, Maria Rosaria Tuzzi, Antonietta Tarallo, Maria Vittoria Barone, Generoso Andria, Giancarlo Parenti

    出版 2009
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  13. 13
    An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use

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

    出版 2021
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  14. 14
    Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

    Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation 由 Donatella Capalbo, Lucia De Martino, Giuliana Giardino, Raffaella Di Mase, Iolanda Di Donato, Giancarlo Parenti, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno

    出版 2012
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  15. 15
    Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

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

    出版 2017
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  16. 16
    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway 由 Giuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, Marco Savarese, Margherita Mutarelli, Giancarlo Parenti, Sandro Banfi, Thomas Braulke, Vincenzo Nigro, Andrea Ballabio

    出版 2015
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  17. 17
    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 由 Monica Cardone, Caterina Porto, Antonietta Tarallo, Mariella Vicinanza, Barbara Rossi, Elena Polishchuk, Francesca Donaudy, Generoso Andria, Maria Antonietta De Matteis, Giancarlo Parenti

    出版 2008
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  18. 18
    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... 由 Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, F Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese

    出版 2017
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  19. 19
    Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

    Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. 由 Andrea Ballabio, Giancarlo Parenti, Rosalba Carrozzo, Gianfranco Sebastio, Generoso Andria, Veronica J. Buckle, Niall J. Fraser, Ian Craig, Mariano Rocchi, G. Cara Romeo

    出版 1987
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  20. 20
    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

    Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase 由 Nicola Brunetti‐Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti

    出版 2002
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