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Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Chen, Jie; Li, Xueli; Edmondson, Andrew; Meyers, Gail Ditewig; Izumi, Kosuke; Ackermann, Amanda M; Morava, Eva; Ficicioglu, Can; Bennett, Michael J; He, Miao.
  • Chen J; Division of Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Li X; Division of Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Edmondson A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Meyers GD; Division of Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Ackermann AM; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Ficicioglu C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Bennett MJ; Division of Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • He M; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA.
Clin Chem ; 65(5): 653-663, 2019 05.
Article en En | MEDLINE | ID: mdl-30770376
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polisacáridos / Glicoproteínas / Análisis de Inyección de Flujo / Trastornos Congénitos de Glicosilación / Espectrometría de Masa por Ionización de Electrospray Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polisacáridos / Glicoproteínas / Análisis de Inyección de Flujo / Trastornos Congénitos de Glicosilación / Espectrometría de Masa por Ionización de Electrospray Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Año: 2019 Tipo del documento: Article