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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...
Autores principales: | Bo, Ryosuke, Awano, Hiroyuki, Nishida, Kosuke, Fujioka, Kazumichi, Nishiyama, Atsushi, Miyake, Osamu, Iijima, Kazumoto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404544/ https://www.ncbi.nlm.nih.gov/pubmed/32775213 http://dx.doi.org/10.1016/j.ymgmr.2020.100634 |
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