The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots.
Rapid Commun Mass Spectrom
; 24(7): 986-94, 2010 Apr 15.
Article
en En
| MEDLINE
| ID: mdl-20209662
ABSTRACT
Lysozomal storage disorders are just beginning to be routinely screened using enzyme activity assays involving dried blood spots and tandem mass spectrometry (MS/MS). This paper discusses some of the analytical challenges associated with published assays including complex sample preparation and potential interference from excess residual substrate. Solutions to these challenges are presented in the form of on-line two-dimensional chromatography to eliminate off-line liquid-liquid extraction (LLE) and solid-phase extraction (SPE), the use of ultra-high-performance liquid chromatography (UHPLC) to separate excess substrate from all other analytes and multiplexed sample introduction for higher throughput required of a population screening assay. High sensitivity, specificity and throughput were demonstrated using this novel method.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromatografía Líquida de Alta Presión
/
Tamizaje Neonatal
/
Enfermedades por Almacenamiento Lisosomal
/
Pruebas Enzimáticas Clínicas
/
Espectrometría de Masas en Tándem
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
Idioma:
En
Año:
2010
Tipo del documento:
Article