Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

• Péter Monostori ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  * 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

  http://orcid.org/0000-0003-3591-6054

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• Glynis Klinke,

  Roles Data curation, Methodology, Validation, Visualization, Writing – original draft, 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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• Jana Hauke,

  Roles Data curation, Formal analysis, Investigation, Methodology, Validation, 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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• Sylvia Richter,

  Roles Data curation, Methodology, Validation, 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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• Jörgen Bierau,

  Roles Methodology, Validation, Writing – review & editing

  Affiliation Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

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• Sven F. Garbade,

  Roles Data curation, Formal analysis, Methodology, Software, 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, Methodology, 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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• Claus-Dieter Langhans,

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft, 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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• Dorothea Haas ,

  Contributed equally to this work with: Dorothea Haas, Jürgen G. Okun

  Roles Conceptualization, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft, 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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• Jürgen G. Okun

  Contributed equally to this work with: Dorothea Haas, Jürgen G. Okun

  Roles Conceptualization, Data curation, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft, 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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