False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, a condition in which the body is unable to break down long-chain fatty acids properly, is the most common fatty acid oxidation disorder in Japan. Tandem mass spectrometry has been used in newborn screening (NBS), allowing the detection of pa...

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Principais autores:	Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, Kazumichi Fujioka, Atsushi Nishiyama, Osamu Miyake, Kazumoto Iijima
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2020-09-01
coleção:	Molecular Genetics and Metabolism Reports
Assuntos:	VLCAD deficiency Body weight False positives Newborn mass screening Carnitine
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S221442692030080X
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