dc.creator | Shigematsu, Yosuke | |
dc.creator | Hirano, Satoko | |
dc.creator | Hata, Ikue | |
dc.creator | Tanaka, Yukie | |
dc.creator | Sudo, Masakatsu | |
dc.creator | Sakura, Nobuo | |
dc.creator | Tajima, Tsuyoshi | |
dc.creator | Yamaguchi, Seiji | |
dc.date.accessioned | 2014-08-05T18:58:58Z | |
dc.date.accessioned | 2022-11-09T15:00:44Z | |
dc.date.available | 2014-08-05T18:58:58Z | |
dc.date.available | 2022-11-09T15:00:44Z | |
dc.date.created | 2014-08-05T18:58:58Z | |
dc.date.issued | 2002 | |
dc.identifier | http://repositorio.ub.edu.ar/handle/123456789/2863 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/5168066 | |
dc.description.abstract | 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. | |
dc.language | en | |
dc.publisher | Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas | |
dc.relation | Journal of Chromatography B, 776;year 2002. 39–48 | |
dc.subject | Newborn mass screening | |
dc.subject | Inherited metabolic disorders | |
dc.subject | Trastornos metabólicos hereditarios | |
dc.subject | Cribado poblacional del Recién Nacido | |
dc.title | Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan | |
dc.type | Artículos de revistas | |