Hasil Pencarian - Maja Di Rocco

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  1. 1
    Molecular basis and clinical management of Gaucher disease

    Molecular basis and clinical management of Gaucher disease oleh Maja Di Rocco, Andrea Loggini, Pierluigi Russo

    Diterbitkan 2013-02-01
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  2. 2
    Mucopolysaccharidoses: early diagnostic signs in infants and children

    Mucopolysaccharidoses: early diagnostic signs in infants and children oleh Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara

    Diterbitkan 2018-11-01
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  3. 3
    Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

    Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency oleh Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini

    Diterbitkan 2018-01-01
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  4. 4
    Stomatocytes and macrothrombocytopenia: A blood film for a rare disease

    Stomatocytes and macrothrombocytopenia: A blood film for a rare disease oleh Alessandro La Rosa, Erica Ricci, Francesca Scuderi, Concetta Micalizzi, Maja Di Rocco

    Diterbitkan 2020-07-01
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  5. 5
    Open issues in Mucopolysaccharidosis type I-Hurler

    Open issues in Mucopolysaccharidosis type I-Hurler oleh Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa

    Diterbitkan 2017-06-01
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  6. 6
    A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

    A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease oleh Maja Di Rocco, Fiorina Giona, Francesca Carubbi, Silvia Linari, Fabrizio Minichilli, Roscoe O. Brady, Giuliano Mariani, Maria Domenica Cappellini

    Diterbitkan 2008-08-01
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  7. 7
    Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach

    Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach oleh Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, Marta Bertamino, Paolo Moretti, Maja Di Rocco

    Diterbitkan 2023-12-01
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  8. 8
    Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

    Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency oleh Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession

    Diterbitkan 2023-07-01
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  9. 9
    Measuring outcomes in ultra-rare bone diseases: Methodology of the palovarotene fibrodysplasia ossificans progressiva clinical development programme

    Measuring outcomes in ultra-rare bone diseases: Methodology of the palovarotene fibrodysplasia ossificans progressiva clinical development programme oleh Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Andrew Strahs, Donna R. Grogan, Rose Marino, Frederick S. Kaplan

    Diterbitkan 2020-10-01
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  10. 10
    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype oleh Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

    Diterbitkan 2019-05-01
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  11. 11
    Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

    Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives? oleh Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria

    Diterbitkan 2020-09-01
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  12. 12
    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. oleh Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

    Diterbitkan 2016-12-01
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  13. 13
    A natural history study of fibrodysplasia ossificans progressiva (FOP): 12-month outcome results

    A natural history study of fibrodysplasia ossificans progressiva (FOP): 12-month outcome results oleh Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim Hanh Le Quan Sang, Andrew Strahs, Rose Marino, Frederick S. Kaplan

    Diterbitkan 2020-10-01
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  14. 14
    International physician survey on management of FOP: a modified Delphi study

    International physician survey on management of FOP: a modified Delphi study oleh Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan

    Diterbitkan 2017-06-01
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  15. 15
    Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

    Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience oleh Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano

    Diterbitkan 2020-10-01
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  16. 16
    Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients

    Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients oleh Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, Maria Carla Bosco, Giuseppe Banderali, Ana Estrella, Corbinian Wanner, David A. Weinstein, Annalisa Sechi, Sabrina Paci, Daniela Melis, Maja Di Rocco, Young Mok Lee, Alessandra Eva

    Diterbitkan 2021-12-01
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  17. 17
    Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

    Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes oleh Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan

    Diterbitkan 2019-05-01
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  18. 18
    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes oleh Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan

    Diterbitkan 2019-05-01
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  19. 19
    Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

    Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Pro... oleh Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao

    Diterbitkan 2020-07-01
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  20. 20
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy oleh Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi

    Diterbitkan 2018-02-01
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