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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Li, Cindy; Desai, Ankit K; Gupta, Punita; Dempsey, Katherine; Bhambhani, Vikas; Hopkin, Robert J; Ficicioglu, Can; Tanpaiboon, Pranoot; Craigen, William J; Rosenberg, Amy S; Kishnani, Priya S.
Afiliação
  • Li C; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Desai AK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Gupta P; St. Joseph's University Hospital, Paterson, NJ, USA.
  • Dempsey K; Center for Human Genetics and Department of Genetics and Genome Sciences, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH, USA.
  • Bhambhani V; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA.
  • Hopkin RJ; Division of Medical Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Ficicioglu C; The Children's Hospital of Philadelphia, Division of Genetics and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Tanpaiboon P; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rosenberg AS; Division of Biologics Review and Research 3, Office of Biotechnology Products, Center for Drug Evaluation and Research, US FDA, Bethesda, MD, USA.
  • Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Priya.kishnani@duke.edu.
Genet Med ; 23(5): 845-855, 2021 05.
Article em En | MEDLINE | ID: mdl-33495531
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos