Hasil Pencarian - 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 oleh Roberto Giugliani

    Diterbitkan 2012-01-01
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  2. 2
    Importance of national and international registries of inborn errors of metabolism

    Importance of national and international registries of inborn errors of metabolism oleh Roberto Giugliani

    Diterbitkan 2014-07-01
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  3. 3
    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 oleh Roberto Giugliani

    Diterbitkan 2019-04-01
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  4. 4
    A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses

    A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses oleh Sandra Leistner, Roberto Giugliani

    Diterbitkan 1998-03-01
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  5. 5
    Nova era da medicina genômica

    Nova era da medicina genômica oleh Moacir Wajner, Roberto Giugliani

    Diterbitkan 2022-07-01
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  6. 6
    Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017)

    Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017) oleh Roberto Giugliani MD, PhD

    Diterbitkan 2018-08-01
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  7. 7
    Genética: uma ferramenta indispensável para o pediatra do século XXI Genetics: an essential tool for the pediatrician of the 21st century

    Genética: uma ferramenta indispensável para o pediatra do século XXI Genetics: an essential tool for the pediatrician of the 21st century oleh Magda Lahorgue Nunes, Roberto Giugliani

    Diterbitkan 2008-08-01
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  8. 8
    ATUALIZANDO O CÓDIGO GENÉTICO: O RNA DE INTERFERÊNCIA – UM COMENTÁRIO SOBRE O PRÊMIO NOBEL DE MEDICINA E FISIOLOGIA DE 2006

    ATUALIZANDO O CÓDIGO GENÉTICO: O RNA DE INTERFERÊNCIA – UM COMENTÁRIO SOBRE O PRÊMIO NOBEL DE MEDICINA E FISIOLOGIA DE 2006 oleh Ursula Matte, Fernanda Oliveira, Roberto Giugliani

    Diterbitkan 2020-01-01
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  9. 9
    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing oleh Alice Brinckmann Oliveira Netto, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Juliana Josahkian, Juliana Josahkian, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani

    Diterbitkan 2021-11-01
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  10. 10
    ERRORES INNATOS DEL METABOLISMO

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

    Diterbitkan 2015-07-01
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  11. 11
    Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

    Assessing the impact of the five senses on quality of life in mucopolysaccharidoses oleh Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa

    Diterbitkan 2020-04-01
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  12. 12
    Terapia gênica

    Terapia gênica oleh Cláudia D. da Silva, Úrsula Silveira Matte, Roberto Giugliani

    Diterbitkan 2022-07-01
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  13. 13
    Newborn Screening for Congenital Infectious Diseases

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

    Diterbitkan 2004-06-01
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  14. 14
    Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

    Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes oleh Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte

    Diterbitkan 2020-11-01
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  15. 15
    Tratamento de erros inatos do metabolismo Treatment of inborn errors of metabolism

    Tratamento de erros inatos do metabolismo Treatment of inborn errors of metabolism oleh Ida Vanessa Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani

    Diterbitkan 2008-08-01
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  16. 16
    Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

    Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome oleh Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya

    Diterbitkan 2017-04-01
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  17. 17
    Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS

    Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS oleh Simone M. de Castro, Raquel Weber, Úrsula Matte, Roberto Giugliani

    Diterbitkan 2007-01-01
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  18. 18
    Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

    Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases oleh Edina Poletto, Gabriela Pasqualim, Roberto Giugliani, Ursula Matte, Guilherme Baldo

    Diterbitkan 2019-05-01
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  19. 19
    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) oleh Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani

    Diterbitkan 2017-06-01
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  20. 20
    Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

    Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy oleh Fabiano de Oliveira Poswar, Fabiano de Oliveira Poswar, Hallana Souza Santos, Angela Barreto Santiago Santos, Angela Barreto Santiago Santos, Solano Vinicius Berger, Carolina Fischinger Moura de Souza, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Guilherme Baldo, Guilherme Baldo, Guilherme Baldo

    Diterbitkan 2022-01-01
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