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Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas, Rebecca C; Whitaker, Ashley M; Kaplan, Paige; Cuddapah, Sanmati; Burfield, Jessica; Blair, Jennifer; Brochi, Ligia; Yudkoff, Marc; Ficicioglu, Can.
Afiliação
  • Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Whitaker AM; Department of Child and Adolescent Psychiatry and Behavioral Sciences, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Kaplan P; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Cuddapah S; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Burfield J; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Blair J; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Brochi L; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Yudkoff M; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Ficicioglu C; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Genet Med ; 19(8): 926-935, 2017 08.
Article em En | MEDLINE | ID: mdl-28151490
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Vitamina B 12 / Triagem Neonatal Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Vitamina B 12 / Triagem Neonatal Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article