Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings
Tajima, Go, Sakura, Nobuo, Kosuga, Motomichi, Okuyama, Torayuki, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.03.2013)
Published in Molecular genetics and metabolism (01.03.2013)
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Journal Article
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test
Sugihara, Keiichi, Yuasa, Miori, Isozaki, Yuko, Hata, Ikue, Ohshima, Yusei, Hamazaki, Takashi, Kakiuchi, Toshihiko, Arao, Masato, Igarashi, Noboru, Kotani, Yumiko, Fukuda, Tokiko, Kagawa, Reiko, Tajima, Go, Shigematsu, Yosuke
Published in Pediatric research (01.11.2022)
Published in Pediatric research (01.11.2022)
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Journal Article
MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
Nohara, Fumikatsu, Tajima, Go, Sasai, Hideo, Makita, Yoshio
Published in Human genome variation (17.01.2022)
Published in Human genome variation (17.01.2022)
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Journal Article
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
Shigematsu, Yosuke, Yuasa, Miori, Ishige, Nobuyuki, Nakajima, Hideki, Tajima, Go
Published in International journal of neonatal screening (14.07.2021)
Published in International journal of neonatal screening (14.07.2021)
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Journal Article
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
Osawa, Yoshimitsu, Kobayashi, Hironori, Tajima, Go, Hara, Keiichi, Yamada, Kenji, Fukuda, Seiji, Hasegawa, Yuki, Aisaki, Junko, Yuasa, Miori, Hata, Ikue, Okada, Satoshi, Shigematsu, Yosuke, Sasai, Hideo, Fukao, Toshiyuki, Takizawa, Takumi, Yamaguchi, Seiji, Taketani, Takeshi
Published in Molecular genetics and metabolism (01.05.2022)
Published in Molecular genetics and metabolism (01.05.2022)
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Journal Article
A classic variant of Fabry disease in a family with the M296I late-onset variant
Hirashio, Shuma, Kagawa, Reiko, Tajima, Go, Masaki, Takao
Published in CEN case reports (01.02.2021)
Published in CEN case reports (01.02.2021)
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Journal Article
Newborn screening for Fabry disease in the western region of Japan
Sawada, Takaaki, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Momosaki, Ken, Inoue, Takahito, Tajima, Go, Sawada, Hirotake, Mastumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Journal Article
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months
Nakamura-Utsunomiya, Akari, Nakamae, Toshio, Kagawa, Reiko, Karakawa, Shuhei, Sakata, Sonoko, Sakura, Fumiaki, Tani, Chihiro, Matsubara, Yoshiko, Ishino, Takashi, Tajima, Go, Okada, Satoshi
Published in International journal of molecular sciences (01.02.2020)
Published in International journal of molecular sciences (01.02.2020)
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Journal Article
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
Tajima, Go, Aisaki, Junko, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (20.02.2024)
Published in International journal of neonatal screening (20.02.2024)
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Journal Article
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria
Shigematsu, Yosuke, Hata, Ikue, Tajima, Go
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding
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 Specificity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (27.10.2023)
Published in International journal of neonatal screening (27.10.2023)
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Journal Article
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Maruyama, Shinsuke, Noguchi, Atsuko, Awaya, Tomonari, Ishige, Mika, Ishige, Nobuyuki, Musha, Ikuma, Ajihara, Sayaka, Ohtake, Akira, Naito, Etsuo, Hamada, Yusuke, Kono, Tomotaka, Asada, Tomoko, Sasai, Hideo, Fukao, Toshiyuki, Fujiki, Ryoji, Ohara, Osamu, Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Yamaguchi, Seiji, Takayanagi, Masaki, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant
Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Published in International journal of neonatal screening (28.06.2021)
Published in International journal of neonatal screening (28.06.2021)
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Journal Article
A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
Shiraishi, Wataru, Tateishi, Takahisa, Hayashida, Shotaro, Tajima, Go, Tsumura, Miyuki, Isobe, Noriko
Published in Rinsho Shinkeigaku (25.10.2023)
Published in Rinsho Shinkeigaku (25.10.2023)
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Journal Article
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report
Yokoi, Katsuyuki, Nakajima, Yoko, Takahashi, Yoshihisa, Hamajima, Takashi, Tajima, Go, Saito, Kazuyoshi, Miyai, Shunsuke, Inagaki, Hidehito, Yoshikawa, Tetsushi, Kurahashi, Hiroki, Ito, Tetsuya
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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Journal Article
A Heterozygous Missense Mutation in Adolescent-Onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Exercise-Induced Rhabdomyolysis
Hisahara, Shin, Matsushita, Takashi, Furuyama, Hiroyasu, Tajima, Go, Shigematsu, Yosuke, Imai, Tomihiro, Shimohama, Shun
Published in The Tohoku Journal of Experimental Medicine (01.04.2015)
Published in The Tohoku Journal of Experimental Medicine (01.04.2015)
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Journal Article
A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
Shiraishi, Wataru, Tateishi, Takahisa, Hayashida, Shotaro, Tajima, Go, Tsumura, Miyuki, Isobe, Noriko
Published in Rinsho Shinkeigaku (2023)
Published in Rinsho Shinkeigaku (2023)
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Journal Article
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.12.2016)
Published in Molecular genetics and metabolism (01.12.2016)
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Journal Article