Søgeresultater - Roberto Giugliani

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  1. 1
    Mucopolysacccharidoses: from understanding to treatment, a century of discoveries

    Mucopolysacccharidoses: from understanding to treatment, a century of discoveries af Roberto Giugliani

    Udgivet 2012
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  2. 2
    Medical Genetics – Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil

    Medical Genetics – Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil af Roberto Giugliani

    Udgivet 2019
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    Editorial
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  3. 3
    Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

    Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects af Alfredo Uribe, Roberto Giugliani

    Udgivet 2013
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  4. 4
    Metabolome alterations: a tool to assess efficacy in clinical trials for neuronopathic lysosomal disorders?

    Metabolome alterations: a tool to assess efficacy in clinical trials for neuronopathic lysosomal disorders? af Roberto Giugliani, Guilherme Baldo

    Udgivet 2017
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  5. 5
    Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

    Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls af Barbara K. Burton, Roberto Giugliani

    Udgivet 2012
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  6. 6
    A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses

    A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses af Sandra Leistner‐Segal, Roberto Giugliani

    Udgivet 1998
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  7. 7
    Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

    Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) af Charles Marques Lourenço, Roberto Giugliani

    Udgivet 2014
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  8. 8
    Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations

    Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations af Janice Carneiro Coelho, Roberto Giugliani

    Udgivet 2000
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  9. 9
    Genética: uma ferramenta indispensável para o pediatra do século XXI

    Genética: uma ferramenta indispensável para o pediatra do século XXI af Magda Lahorgue Nunes, Roberto Giugliani

    Udgivet 2008
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  10. 10
    ERRORES INNATOS DEL METABOLISMO

    ERRORES INNATOS DEL METABOLISMO af Juan Francisco Cabello A., Roberto Giugliani

    Udgivet 2015
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  11. 11
    Characterization of orthopedic manifestations in patients with mucopolysaccharidosis <scp>II</scp> using data from 15 years of the Hunter Outcome Survey

    Characterization of orthopedic manifestations in patients with mucopolysaccharidosis <scp>II</scp> using data from 15 years of the Hunter Outcome Survey af Bianca Link, Jaco Botha, Roberto Giugliani

    Udgivet 2023
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  12. 12
    Genetics of homocysteine metabolism and associated disorders

    Genetics of homocysteine metabolism and associated disorders af Sílvia Brustolin, Roberto Giugliani, Têmis Maria Félix

    Udgivet 2010
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  13. 13
    High-Risk Screening and Diagnosis of Inborn Errors of Metabolism

    High-Risk Screening and Diagnosis of Inborn Errors of Metabolism af Gabriel Civallero, Raquel de Kremer, Roberto Giugliani

    Udgivet 2018
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  14. 14
    Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)

    Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I) af Lorne A. Clarke, Roberto Giugliani, Joseph Muenzer

    Udgivet 2023
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  15. 15
    Non Viral Gene Transfer Approaches for Lysosomal Storage Disorders

    Non Viral Gene Transfer Approaches for Lysosomal Storage Disorders af Úrsula da Silveira Matte, Guilherme Baldo, Roberto Giugliani

    Udgivet 2011
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    Capítulo de Livro
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  16. 16
    Newborn Screening for Pompe Disease

    Newborn Screening for Pompe Disease af Olaf A. Bodamer, C. Ronald Scott, Roberto Giugliani

    Udgivet 2017
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  17. 17
    Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

    Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses af Maurizio Scarpa, Paul Harmatz, Bianca Meesen, Roberto Giugliani

    Udgivet 2018
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  18. 18
    Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)

    Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I) af Roberto Giugliani, Nicole Muschol, Mark Dant, Joseph Muenzer

    Udgivet 2022
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  19. 19
    Plain Language Summary of the ASCEND study looking at the results of treatment with olipudase alfa after one year in adults with acid sphingomyelinase deficiency (ASMD)

    Plain Language Summary of the ASCEND study looking at the results of treatment with olipudase alfa after one year in adults with acid sphingomyelinase deficiency (ASMD) af Melissa Wasserstein, Robin Lachmann, Roberto Giugliani, Eugen Mengel

    Udgivet 2024
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  20. 20
    Newborn Screening for Congenital Infectious Diseases

    Newborn Screening for Congenital Infectious Diseases af Eurico Camargo Neto, Rosélia Rubin, Jaqueline Schulte, Roberto Giugliani

    Udgivet 2004
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