Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Mol Genet Metab
; 110(3): 237-40, 2013 Nov.
Article
en En
| MEDLINE
| ID: mdl-23953072
ABSTRACT
α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at -20°C. At room temperature, α-AASA and P6C in DBS appeared stable for 3 days and then decreased by up to 70% after 14 days but remained much higher than control, indicating newborn screening for PDE is feasible.
Palabras clave
DBS; Dried blood spots; Dried blood spots (DBS); NBS; Newborn screening; Newborn screening (NBS); P6C; PDE; Piperideine-6-carboxylate; Pyridoxine-dependent epilepsy; Pyridoxine-dependent epilepsy (PDE); α-AASA; α-Aminoadipic semialdehyde (α-AASA); α-Aminoadipic semialdehyde antiquitin
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromatografía Liquida
/
Epilepsia
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Espectrometría de Masas en Tándem
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Screening_studies
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Año:
2013
Tipo del documento:
Article