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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
Cremonesi, Alessio; Meili, David; Rassi, Anahita; Poms, Martin; Tavazzi, Barbara; Skopová, Václava; Häberle, Johannes; Zikánová, Marie; Hersberger, Martin.
Afiliación
  • Cremonesi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Meili D; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Rassi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Poms M; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Tavazzi B; UniCamillus-Saint Camillus International University of Health and Medical Sciences, Rome, Italy.
  • Skopová V; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Zikánová M; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Hersberger M; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Clin Chem Lab Med ; 61(10): 1792-1801, 2023 09 26.
Article en En | MEDLINE | ID: mdl-37011034
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Purinas / Espectrometría de Masas en Tándem Tipo de estudio: Diagnostic_studies / Guideline Límite: Child / Humans Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2023 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Purinas / Espectrometría de Masas en Tándem Tipo de estudio: Diagnostic_studies / Guideline Límite: Child / Humans Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2023 Tipo del documento: Article País de afiliación: Suiza