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Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Pajares-García, Sonia; González de Aledo-Castillo, José Manuel; Flores-Jiménez, José Eduardo; Collado, Tatiana; Pérez, Judit; Paredes-Fuentes, Abraham José; Argudo-Ramírez, Ana; López-Galera, Rosa María; Prats, Blanca; García-Villoria, Judit.
Afiliación
  • Pajares-García S; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • González de Aledo-Castillo JM; Center for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain.
  • Flores-Jiménez JE; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • Collado T; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • Pérez J; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • Paredes-Fuentes AJ; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • Argudo-Ramírez A; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • López-Galera RM; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • Prats B; Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
  • García-Villoria J; Center for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain.
Clin Chem Lab Med ; 62(3): 493-505, 2024 Feb 26.
Article en En | MEDLINE | ID: mdl-37794778
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Carnitina / Tamizaje Neonatal / Glutaril-CoA Deshidrogenasa / Espectrometría de Masas en Tándem / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2024 Tipo del documento: Article País de afiliación: España
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Carnitina / Tamizaje Neonatal / Glutaril-CoA Deshidrogenasa / Espectrometría de Masas en Tándem / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2024 Tipo del documento: Article País de afiliación: España