MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM -н Fumikatsu Nohara, Go Tajima, Hideo Sasai, Yoshio Makita

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Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process -н Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima

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Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan -н Yosuke Shigematsu, Miori Yuasa, Nobuyuki Ishige, Hideki Nakajima, Go Tajima

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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... -н Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

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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 -н Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada

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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... -н Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

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Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report -н Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito

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Newborn screening for Fabry disease in the western region of Japan -н Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura

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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency -н Naohiro Ikeda, Shinsuke Maruyama, Kanna Nakano, Ryo Imakiire, Yumiko Ninomiya, Shunji Seki, Kosuke Yanagimoto, Yasuyuki Kakihana, Keiichi Hara, Go Tajima, Yasuhiro Okamoto, Yoshifumi Kawano

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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... -н 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

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