Works matching AU Sakai, Norio


Results: 143
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    Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 618, doi. 10.1002/jimd.12610
    By:
    • Fukuda, Tokiko;
    • Ito, Tetsuya;
    • Hamazaki, Takashi;
    • Inui, Ayano;
    • Ishige, Mika;
    • Kagawa, Reiko;
    • Sakai, Norio;
    • Watanabe, Yoriko;
    • Kobayashi, Hironori;
    • Wasaki, Yosuke;
    • Taura, Junki;
    • Imamura, Yuki;
    • Tsukiuda, Tsutomu;
    • Nakamura, Kimitoshi
    Publication type:
    Article
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    Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy.

    Published in:
    Nephrology Dialysis Transplantation, 2022, v. 37, n. 1, p. 53, doi. 10.1093/ndt/gfaa298
    By:
    • Yonishi, Hiroaki;
    • Namba-Hamano, Tomoko;
    • Hamano, Takayuki;
    • Hotta, Masaki;
    • Nakamura, Jun;
    • Sakai, Shinsuke;
    • Minami, Satoshi;
    • Yamamoto, Takeshi;
    • Takahashi, Atsushi;
    • Kobayashi, Wataru;
    • Maeda, Ikuhiro;
    • Hidaka, Yoh;
    • Takabatake, Yoshitsugu;
    • Sakai, Norio;
    • Isaka, Yoshitaka
    Publication type:
    Article
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    Characteristic craniofacial defects associated with a novel USP9X truncation mutation.

    Published in:
    Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w
    By:
    • Nagata, Namiki;
    • Kurosaka, Hiroshi;
    • Higashi, Kotaro;
    • Yamaguchi, Masaya;
    • Yamamoto, Sayuri;
    • Inubushi, Toshihiro;
    • Nagata, Miho;
    • Ishihara, Yasuki;
    • Yonei, Ayumi;
    • Miyashita, Yohei;
    • Asano, Yoshihiro;
    • Sakai, Norio;
    • Sakata, Yasushi;
    • Kawabata, Shigetada;
    • Yamashiro, Takashi
    Publication type:
    Article
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    Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69526-6
    By:
    • Silventoinen, Karri;
    • Jelenkovic, Aline;
    • Sund, Reijo;
    • Latvala, Antti;
    • Honda, Chika;
    • Inui, Fujio;
    • Tomizawa, Rie;
    • Watanabe, Mikio;
    • Sakai, Norio;
    • Rebato, Esther;
    • Busjahn, Andreas;
    • Tyler, Jessica;
    • Hopper, John L.;
    • Ordoñana, Juan R.;
    • Sánchez-Romera, Juan F.;
    • Colodro-Conde, Lucia;
    • Calais-Ferreira, Lucas;
    • Oliveira, Vinicius C.;
    • Ferreira, Paulo H.;
    • Medda, Emanuela
    Publication type:
    Article
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    Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045
    By:
    • Tomokazu Kimizu;
    • Shinobu Ida;
    • Kentaro Okamoto;
    • Hiroyuki Awano;
    • Niba, Emma Tabe Eko;
    • Wijaya, Yogik Onky Silvana;
    • Shin Okazaki;
    • Hideki Shimomura;
    • Tomoko Lee;
    • Koji Tominaga;
    • Shin Nabatame;
    • Toshio Saito;
    • Takashi Hamazaki;
    • Norio Sakai;
    • Kayoko Saito;
    • Haruo Shintaku;
    • Kandai Nozu;
    • Yasuhiro Takeshima;
    • Kazumoto Iijima;
    • Hisahide Nishio
    Publication type:
    Article
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