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A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.
Bahr, Timothy M; Lozano-Chinga, Michell; Agarwal, Archana M; Meznarich, Jessica A; Yost, Christian C; Li, Peng; Reading, N Scott; Prchal, Josef T; Christensen, Robert D.
Afiliación
  • Bahr TM; Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA, tim.bahr@hsc.utah.edu.
  • Lozano-Chinga M; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
  • Agarwal AM; Division of Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, Utah, USA.
  • Meznarich JA; ARUP Laboratories, Salt Lake City, Utah, USA.
  • Yost CC; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
  • Li P; Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
  • Reading NS; Molecular Medicine Program, University of Utah Health, Salt Lake City, Utah, USA.
  • Prchal JT; Division of Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, Utah, USA.
  • Christensen RD; ARUP Laboratories, Salt Lake City, Utah, USA.
Neonatology ; 117(4): 532-535, 2020.
Article en En | MEDLINE | ID: mdl-32987391
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glucosafosfato Deshidrogenasa / Deficiencia de Glucosafosfato Deshidrogenasa / Hiperbilirrubinemia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Neonatology Asunto de la revista: PERINATOLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glucosafosfato Deshidrogenasa / Deficiencia de Glucosafosfato Deshidrogenasa / Hiperbilirrubinemia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Neonatology Asunto de la revista: PERINATOLOGIA Año: 2020 Tipo del documento: Article