Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two wi...
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| Autores principales: | , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | Inglés |
| Publicado: |
Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
2014
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| Materias: | |
| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2863 |
| Aporte de: |
| Sumario: | Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a
newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, five patients
with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency,
three with citrullinemia type II, and one with phenylketonuria were identified. In a selective screening of 164 patients with
symptoms mainly related to hypoglycemia and/or hyperammonemia, 12 with fatty acid oxidation disorders and six with
other disorders were found. The results indicated the importance of newborn screening using this technology in Japan. |
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