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Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD d...

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Tallennettuna:
Päätekijät: Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI AG 2024-02-01
Sarja:International Journal of Neonatal Screening
Aiheet:
very-long-chain acyl-CoA dehydrogenase
<i>ACADVL</i>
newborn screening
false-positive
tetradecenoylcarnitine (C14:1)
decanoylcarnitine (C10)
Linkit:https://www.mdpi.com/2409-515X/10/1/15
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