يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Nishi, Ikumi"', وقت الاستعلام: 0.80s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Pathogenesis and Pathophysiology of Citrin (a Mitochondrial Aspartate Glutamate Carrier) Deficiency

    المؤلفون: Saheki, Takeyori, Kobayashi, Keiko, Iijima, Mikio, Nishi, Ikumi, Yasuda, Tomotsugu, Yamaguchi, Naoki, Gao, Hong Zhi, Jalil, Md. Abdul, Begum, Laila, Li, Meng Xian

    المصدر: Metabolic Brain Disease. December 2002 17(4):335-346

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  2. 2
    دورية أكاديمية
    Neonatal presentation of adult-onset type II citrullinemia

    المؤلفون: Ohura, Toshihiro, Kobayashi, Keiko, Tazawa, Yusaku, Nishi, Ikumi, Abukawa, Daiki, Sakamoto, Osamu, Iinuma, Kazuie, Saheki, Takeyori

    المصدر: Human Genetics. February 2001 108(2):87-90

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  3. 3
    دورية أكاديمية
    Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

    المؤلفون: Yasuda, Tomotsugu, Yamaguchi, Naoki, Kobayashi, Keiko, Nishi, Ikumi, Horinouchi, Hidehito, Jalil, Md. Abdul, Li, Meng Xian, Ushikai, Miharu, Iijima, Mikio, Kondo, Ikuko, Saheki, Takeyori

    المصدر: Human Genetics. 107(6):537-545

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  4. 4
    دورية أكاديمية
    Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

    المؤلفون: Yamaguchi, Naoki, Kobayashi, Keiko, Yasuda, Tomotsugu, Nishi, Ikumi, Iijima, Mikio, Nakagawa, Masanori, Osame, Mitsuhiro, Kondo, Ikuko, Saheki, Takeyori

    المصدر: Human Mutation; Feb2002, Vol. 19 Issue 2, p122-130, 9p

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  5. 5
    دورية أكاديمية
    Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

    المؤلفون: Kobayashi K; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University, Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. dodoko12@m.kufm.kagoshima-u.ac.jp, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T

    المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2003 Nov; Vol. 80 (3), pp. 356-9.

    نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192 (Print) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

    مواضيع طبية MeSH: Asian People/*genetics , Calcium-Binding Proteins/*deficiency , Citrullinemia/*genetics , Membrane Transport Proteins/*genetics , Mitochondrial Proteins/*genetics , Mutation/*genetics , Organic Anion Transporters/*deficiency, Adolescent ; Adult ; Aged ; Calcium-Binding Proteins/genetics ; Child ; Female ; Genetic Carrier Screening ; Genetic Testing ; Humans ; Japan ; Male ; Middle Aged ; Mitochondrial Membrane Transport Proteins ; Organic Anion Transporters/genetics ; Polymorphism, Restriction Fragment Length

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