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Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Speci... por Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publicado 2023-10-01
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Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common <i>PCCB</i> Variant por Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada
Publicado 2021-06-01
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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 Jap... por Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publicado 2024-02-01
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