Search Results - "Gertsen, Elena"

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  1. 1
    Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan

    Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan by Ito, Yasushi, Gertsen, Elena, Oguni, Hirokazu, Nakayama, Tomohiro, Matsuo, Mari, Funatsuka, Makoto, Voit, Thomas, Klepper, Jörg, Osawa, Makiko

    Published in Brain & development (Tokyo. 1979) (01-06-2005)
    “…We report the first two Japanese children diagnosed with glucose transporter type 1 (GLUT1) deficiency syndrome. Both boys had been treated under the initial…”
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  2. 2
    Bench Meets Bedside:  A 10-Year-Old Girl and Amino Acid Residue Glycine 75 of the Facilitative Glucose Transporter GLUT1

    Bench Meets Bedside:  A 10-Year-Old Girl and Amino Acid Residue Glycine 75 of the Facilitative Glucose Transporter GLUT1 by Klepper, Jörg, Salas-Burgos, Alexis, Gertsen, Elena, Fischbarg, Jorge

    Published in Biochemistry (Easton) (27-09-2005)
    “…In 2000, amino acid residue G75 of the facilitative glucose transporter GLUT1 was identified by mutagenesis as being essential for transport function…”
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  3. 3
    Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene

    Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene by Lange, Peter, Gertsen, Elena, Monden, Ingrid, Klepper, Jörg, Keller, Konrad

    Published in FEBS letters (04-12-2003)
    “…The functional consequences of an in vivo heterozygous insertion mutation in the human facilitated glucose transporter isoform 1 (GLUT1) gene were…”
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  4. 4
    Metaplastic breast cancer: a presentation of two cases and a review of the literature

    Metaplastic breast cancer: a presentation of two cases and a review of the literature by Lamb, Millard Ray, Gertsen, Elena, Middlemas, Eleanor

    Published in Tennessee medicine (01-02-2013)
    “…Metaplastic breast cancer has been difficult to diagnose and classify for a number of reasons. Its rarity prevents any important conclusions to be made, such…”
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  5. 5
    Metaplastic breast cancer: a presentation of two cases and a review of the literature

    Metaplastic breast cancer: a presentation of two cases and a review of the literature by Lamb, Millard Ray, Gertsen, Elena, Middlemas, Eleanor

    Published in Tennessee medicine (01-08-2012)
    “…Metaplastic breast cancer has been difficult to diagnose and classify for a number of reasons. Its rarity prevents any important conclusions to be made, such…”
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  6. 6
    Carcinosarcoma of the ovary: case report and literature review

    Carcinosarcoma of the ovary: case report and literature review by Lamb, Millard Ray, Gertsen, Elena, Middlemas, Eleanor

    Published in Tennessee medicine (01-03-2012)
    “…Ovarian carcinosarcoma is a rare and aggressive tumor; patients diagnosed with this cancer are usually given a poor prognosis of under three years. It consists…”
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  7. 7
    Discordant B- and T-cell non-Hodgkin's lymphoma: case report and review of literature

    Discordant B- and T-cell non-Hodgkin's lymphoma: case report and review of literature by Reed, Donovan, Middlemas, Eleanor, Gertsen, Elena, Lamb, M Ray

    Published in Tennessee medicine (01-11-2013)
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