Showing 1 - 6 results of 6 for search 'Keiichi Hara', query time: 0.03s
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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... by Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Published 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 by Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada
Published 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... by Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Published 2024-02-01
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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency by Naohiro Ikeda, Shinsuke Maruyama, Kanna Nakano, Ryo Imakiire, Yumiko Ninomiya, Shunji Seki, Kosuke Yanagimoto, Yasuyuki Kakihana, Keiichi Hara, Go Tajima, Yasuhiro Okamoto, Yoshifumi Kawano
Published 2017-06-01
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Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report by Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Haruo Mizuno, Masao Kobayashi
Published 2017-12-01
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remet... by Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada
Published 2021-07-01
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