Hasil Pencarian - Hideo Sasai

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  1. 1
    MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

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

    Diterbitkan 2022-01-01
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  2. 2
    A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

    A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review oleh Jun Kido, Hiroshi Mitsubuchi, Takehisa Watanabe, Keishin Sugawara, Hideo Sasai, Toshiyuki Fukao, Kimitoshi Nakamura

    Diterbitkan 2021-12-01
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  3. 3
    A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia

    A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia oleh Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao

    Diterbitkan 2019-07-01
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  4. 4
    Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

    Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan oleh Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi

    Diterbitkan 2021-08-01
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  5. 5
    A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment

    A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment oleh Nagie Tozaki, Chisato Tawada, Hirofumi Niwa, Yoko Mizutani, En Shu, Aki Kawase, Yuki Miwa, Hidenori Ohnishi, Hideo Sasai, Hideo Sasai, Keisuke Miyako, Junichi Hosokawa, Ayaka Kato, Kazuhiro Kobayashi, Tatsuhiko Miyazaki, Yohei Shirakami, Masahito Shimizu, Hiroaki Iwata

    Diterbitkan 2022-12-01
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  6. 6
    A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia

    A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia oleh Tomoko Lee, Yuichi Takami, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hideo Sasai, Hiroki Otsuka, Yasuhiro Takeshima, Toshiyuki Fukao

    Diterbitkan 2019-07-01
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  7. 7
    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

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

    Diterbitkan 2023-10-01
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  8. 8
    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

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

    Diterbitkan 2021-06-01
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  9. 9
    Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy

    Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy oleh Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, the SMON Research Group Members

    Diterbitkan 2024-06-01
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  10. 10
    Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

    Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report oleh Madoka Uesugi, Jun Mori, Shota Fukuhara, Noriko Fujii, Tadaki Omae, Hideo Sasai, Keiko Ichimoto, Kei Murayama, Toshio Osamura, Hajime Hosoi

    Diterbitkan 2020-12-01
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  11. 11
    Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening

    Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening oleh Saho Tochibora, Tomohiro Hori, Mai Mori, Hideki Matsumoto, Hiroki Otsuka, Hideo Sasai, Yuko Ito, Yukiko Kasahara, Norio Kawamoto, Hidenori Ohnishi

    Diterbitkan 2022-07-01
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  12. 12
    Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)

    Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON) oleh Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, SMON research group members

    Diterbitkan 2022-01-01
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  13. 13
    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

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

    Diterbitkan 2024-02-01
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  14. 14
    A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

    A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis oleh Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD

    Diterbitkan 2016-05-01
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  15. 15
    Beta-Ketothiolase Deficiency

    Beta-Ketothiolase Deficiency oleh Elsayed Abdelkreem MD, MSc, Hiroki Otsuka MD, Hideo Sasai MD, Yuka Aoyama PhD, Tomohiro Hori MD, PhD, Mohamed Abd El Aal MD, PhD, Shaimaa Mahmoud MD, PhD, Toshiyuki Fukao MD, PhD

    Diterbitkan 2016-03-01
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