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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan, Jirair K; Yang, Samuel P; Ferdinandusse, Sacha; Jack, Rhona M; Miron, Alexander; Grahame, George; DeBrosse, Suzanne D; Hoppel, Charles L; Kerr, Douglas S; Wanders, Ronald J A.
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  • Bedoyan JK; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center, C
  • Yang SP; Clinical Genomics and Predictive Medicine, Providence Medical Group, Spokane, WA, USA.
  • Ferdinandusse S; Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Jack RM; Seattle Children's Hospital Laboratory, University of Washington, Seattle, WA, USA.
  • Miron A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
  • Grahame G; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • DeBrosse SD; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
  • Hoppel CL; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Pharmacology, Case Western Reserve University, Cleveland, OH, USA; Department of Medicine, Case Western Reserve University, Cleveland, OH, USA.
  • Kerr DS; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
  • Wanders RJA; Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mol Genet Metab ; 120(4): 342-349, 2017 04.
Article en En | MEDLINE | ID: mdl-28202214
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Análisis de Secuencia de ADN / Enoil-CoA Hidratasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Análisis de Secuencia de ADN / Enoil-CoA Hidratasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos