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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise, Christina G; Morales, Jose Andres; Lee, Ariel S; Velez-Bartolomei, Frances; Floyd, Brendan J; Levy, Rebecca J; Cusmano-Ozog, Kristina P; Feigenbaum, Annette S; Ruzhnikov, Maura R Z; Lee, Chung U; Enns, Gregory M.
Afiliação
  • Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Morales JA; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Lee AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA.
  • Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Floyd BJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Levy RJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA.
  • Feigenbaum AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA.
  • Ruzhnikov MRZ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Lee CU; Division of Child Neurology, Department of Neurology, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Enns GM; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
Am J Med Genet A ; 185(6): 1848-1853, 2021 06.
Article em En | MEDLINE | ID: mdl-33683010

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Adrenoleucodistrofia / Doenças Autoimunes do Sistema Nervoso / Doenças Genéticas Ligadas ao Cromossomo X / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Adrenoleucodistrofia / Doenças Autoimunes do Sistema Nervoso / Doenças Genéticas Ligadas ao Cromossomo X / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article