Resultados da pesquisa - Go Tajima

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category Por Yuko Matsumoto, Yuko Kushihashi, Akiko Suwa, Go Tajima

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Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan Por Keiko Konomura, Motoko Tanaka, Go Tajima, Eri Hoshino

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Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in... Por Go Tajima, Nobuyuki Ishige, Junji Hanai, Keiko Konomura

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

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A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan Por Eri Sakai, Takahiro Yamada, Takashi Hamazaki, Go Tajima, Toshiyuki Seto

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Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan Por 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... Por 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 Por 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... Por 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 Por 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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P574: Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD Por Vanessa Rangel Miller, Jennifer Audi, Sarah C. Grünert, Pinay Kainth, David Kasper, Tatiele Nalin, Mariza Pasquali, Go Tajima, Kimimasa Tobita, Nicole Miller, Ida Vanessa Schwartz

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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... Por 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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A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G&gt;T Por Kentaro Ito, Go Tajima, Chikako Kamisato, Miyuki Tsumura, Mitsuhiro Iwamoto, Yukiko Sekiguchi, Yukinobu Numata, Kyoko Watanabe, Yoshiyuki Yabe, Satomi Kanki, Yusuke Fujieda, Koichi Goto, Yoshitaka Sogawa, Masataka Oitate, Hiroyuki Nagase, Shinnosuke Tsuji, Tomohiro Nishizawa, Masayo Kakuta, Takeshi Masuda, Yoshiyuki Onishi, Makoto Koizumi, Hidefumi Nakamura, Satoshi Okada, Masafumi Matsuo, Kiyosumi Takaishi

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