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:	Shigematsu, Yosuke, Hirano, Satoko, Hata, Ikue, Tanaka, Yukie, Sudo, Masakatsu, Sakura, Nobuo, Tajima, Tsuyoshi, Yamaguchi, Seiji
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
Materias:	Newborn mass screening Inherited metabolic disorders Trastornos metabólicos hereditarios Cribado poblacional del Recién Nacido
Acceso en línea:	http://repositorio.ub.edu.ar/handle/123456789/2863
Aporte de:	Repositorio Institucional - Universidad de Belgrano (UB) de Universidad de Belgrano

id	I36-R142-123456789-2863
record_format	dspace
institution	Universidad de Belgrano
institution_str	I-36
repository_str	R-142
collection	Repositorio Institucional - Universidad de Belgrano (UB)
language	Inglés
topic	Newborn mass screening Inherited metabolic disorders Trastornos metabólicos hereditarios Cribado poblacional del Recién Nacido
spellingShingle	Newborn mass screening Inherited metabolic disorders Trastornos metabólicos hereditarios Cribado poblacional del Recién Nacido Shigematsu, Yosuke Hirano, Satoko Hata, Ikue Tanaka, Yukie Sudo, Masakatsu Sakura, Nobuo Tajima, Tsuyoshi Yamaguchi, Seiji Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
topic_facet	Newborn mass screening Inherited metabolic disorders Trastornos metabólicos hereditarios Cribado poblacional del Recién Nacido
description	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.
format	Article
author	Shigematsu, Yosuke Hirano, Satoko Hata, Ikue Tanaka, Yukie Sudo, Masakatsu Sakura, Nobuo Tajima, Tsuyoshi Yamaguchi, Seiji
author_facet	Shigematsu, Yosuke Hirano, Satoko Hata, Ikue Tanaka, Yukie Sudo, Masakatsu Sakura, Nobuo Tajima, Tsuyoshi Yamaguchi, Seiji
author_sort	Shigematsu, Yosuke
title	Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
title_short	Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
title_full	Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
title_fullStr	Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
title_full_unstemmed	Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
title_sort	newborn mass screening and selective screening using electrospray tandem mass spectrometry in japan
publisher	Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
publishDate	2014
url	http://repositorio.ub.edu.ar/handle/123456789/2863
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bdutipo_str	Repositorios
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Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

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