dc.creatorShigematsu, Yosuke
dc.creatorHirano, Satoko
dc.creatorHata, Ikue
dc.creatorTanaka, Yukie
dc.creatorSudo, Masakatsu
dc.creatorSakura, Nobuo
dc.creatorTajima, Tsuyoshi
dc.creatorYamaguchi, Seiji
dc.date.accessioned2014-08-05T18:58:58Z
dc.date.accessioned2022-11-09T15:00:44Z
dc.date.available2014-08-05T18:58:58Z
dc.date.available2022-11-09T15:00:44Z
dc.date.created2014-08-05T18:58:58Z
dc.date.issued2002
dc.identifierhttp://repositorio.ub.edu.ar/handle/123456789/2863
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5168066
dc.description.abstractElectrospray 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.
dc.languageen
dc.publisherUniversidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
dc.relationJournal of Chromatography B, 776;year 2002. 39–48
dc.subjectNewborn mass screening
dc.subjectInherited metabolic disorders
dc.subjectTrastornos metabólicos hereditarios
dc.subjectCribado poblacional del Recién Nacido
dc.titleNewborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
dc.typeArtículos de revistas


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