Søgeresultater - Carolina Fischinger Moura de Souza

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  1. 1
    Glycogen Storage Diseases

    Glycogen Storage Diseases af Terry G. J. Derks, Carolina Fischinger Moura de Souza

    Udgivet 2017
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  2. 2
    A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)

    A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS) af Fernanda Nallely Martínez Tenorio, Carolina Fischinger Moura de Souza

    Udgivet 2023
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  3. 3
    1039 Inborn Errors of Metabolism (IEM) in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies

    1039 Inborn Errors of Metabolism (IEM) in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies af Clarissa Gutiérrez Carvalho, Roberto Giugliani, Carolina Fischinger Moura de Souza

    Udgivet 2010
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  4. 4
    Triagem neonatal de distúrbios metabólicos

    Triagem neonatal de distúrbios metabólicos af Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Roberto Giugliani

    Udgivet 2002
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  5. 5
    Tratamento de erros inatos do metabolismo

    Tratamento de erros inatos do metabolismo af Ida Vanessa Döederlein Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani

    Udgivet 2008
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  6. 6
    Treatment of inborn errors of metabolism

    Treatment of inborn errors of metabolism af Ida Vanessa Döederlein Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani

    Udgivet 2008
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  7. 7
    Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study

    Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study af Luciana S. Carneiro, Carolina Fischinger Moura de Souza, Roberto Giugliani, Simone Chaves Fagondes

    Udgivet 2022
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  8. 8
    Inborn Errors of Metabolism with Hypoglycemia

    Inborn Errors of Metabolism with Hypoglycemia af David A. Weinstein, Ulrike Steuerwald, Carolina Fischinger Moura de Souza, Terry G. J. Derks

    Udgivet 2018
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  9. 9
    Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI

    Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI af Leonardo Vedolin, Germán González, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, A. James Barkovich

    Udgivet 2012
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  10. 10
    Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil

    Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil af Ana Cristina Puga, Laura Bannach Jardim, Leila Chimelli, Carolina Fischinger Moura de Souza, MARTA CLIVATI

    Udgivet 2000
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  11. 11
    Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders

    Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders af Carolina Fischinger Moura de Souza, Bibiana Mello de Oliveira, Ida Vanessa Döederlein Schwartz, Terry G. J. Derks

    Udgivet 2021
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  12. 12
    A Case of Early Infantile Pompe Disease with Atypical Manifestation

    A Case of Early Infantile Pompe Disease with Atypical Manifestation af Carolina Fischinger Moura de Souza, Karina Donnis, Filippo Pinto e Vairo, Maira Burim, Simone Chaves Fagondes, Roberto Giugliani

    Udgivet 2015
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  13. 13
    A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study

    A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study af Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Mónica Álvarez-Córdoba, Diana Reche-López, José A. Sánchez‐Alcázar

    Udgivet 2024
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  14. 14
    Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

    Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases af Chenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, Lı́lia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz

    Udgivet 2018
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  15. 15
    Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

    Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective af Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani

    Udgivet 2023
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  16. 16
    c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

    c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family af Vitor G.L. Dantas, Karina Lezirovitz, Guilherme Lopes Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina Célia Mingroni‐Netto

    Udgivet 2014
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  17. 17
    Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

    Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial af Luiz Felipe Rocha Vasconcellos, Ana Cláudia Leite, José Luis Sá Cavalcanti, Denise Madeira Moreira, Denise Feijó, Carolina Fischinger Moura de Souza

    Udgivet 2007
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  18. 18
    Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

    Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism af Roberto Giugliani, Filippo Pinto e Vairo, Mariluce Riegel, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Sérgio D.J. Pena

    Udgivet 2016
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  19. 19
    The molar tooth sign and the bat wing appearance in Joubert syndrome

    The molar tooth sign and the bat wing appearance in Joubert syndrome af Matheus Dorigatti Soldatelli, Natália Henz Concatto, Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Juliano Adams Pérez, Juliana Àvila Duarte

    Udgivet 2018
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  20. 20
    Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

    Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls af Filippo Pinto e Vairo, Erin Conboy, Carolina Fischinger Moura de Souza, Amie Jones, Sarah Barnett, Eric W. Klee, Brendan C. Lanpher

    Udgivet 2018
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