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Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Van Dooijeweert, Birgit; Broeks, Melissa H; Verhoeven-Duif, Nanda M; Van Beers, Eduard J; Nieuwenhuis, Edward E S; Van Solinge, Wouter W; Bartels, Marije; Jans, Judith J; Van Wijk, Richard.
Afiliação
  • Van Dooijeweert B; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht. b.vandooijeweert-3@umcutrecht.nl.
  • Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht.
  • Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht.
  • Van Beers EJ; Van Creveldkliniek, University Medical Center Utrecht, Utrecht.
  • Nieuwenhuis EES; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht.
  • Van Solinge WW; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht.
  • Bartels M; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.; Van Creveldkliniek, University Medical Center Utrecht, Utrecht.
  • Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht.
  • Van Wijk R; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht.
Haematologica ; 106(10): 2720-2725, 2021 10 01.
Article em En | MEDLINE | ID: mdl-33054133
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Piruvatos / Anemia Hemolítica Congênita não Esferocítica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Piruvatos / Anemia Hemolítica Congênita não Esferocítica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article