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Open Access
Peer-reviewed
Research Article
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
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Péter Monostori ,
Contributed equally to this work with: Péter Monostori, Glynis Klinke, Gwendolyn Gramer, Jürgen G. Okun
Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft
* E-mail: monostoripeter@gmail.com
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Glynis Klinke ,
Contributed equally to this work with: Péter Monostori, Glynis Klinke, Gwendolyn Gramer, Jürgen G. Okun
Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Sylvia Richter,
Roles Data curation, Investigation, Methodology, Validation, Writing – original draft
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Ákos Baráth,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Department of Pediatrics, University of Szeged, Szeged, Hungary
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Ralph Fingerhut,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Children’s Research Center, Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland
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Matthias R. Baumgartner,
Roles Supervision, Writing – review & editing
Affiliation Children’s Research Center, Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland
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Stefan Kölker,
Roles Conceptualization, Funding acquisition, Project administration, Writing – review & editing
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Georg F. Hoffmann,
Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – review & editing
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Gwendolyn Gramer ,
Contributed equally to this work with: Péter Monostori, Glynis Klinke, Gwendolyn Gramer, Jürgen G. Okun
Roles Conceptualization, Data curation, Funding acquisition, Methodology, Project administration, Supervision, Validation, Writing – original draft
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Jürgen G. Okun
Contributed equally to this work with: Péter Monostori, Glynis Klinke, Gwendolyn Gramer, Jürgen G. Okun
Roles Conceptualization, Data curation, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft
Affiliation Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
- Péter Monostori,
- Glynis Klinke,
- Sylvia Richter,
- Ákos Baráth,
- Ralph Fingerhut,
- Matthias R. Baumgartner,
- Stefan Kölker,
- Georg F. Hoffmann,
- Gwendolyn Gramer,
- Jürgen G. Okun
- Published: September 15, 2017
- https://doi.org/10.1371/journal.pone.0184897