Search Results - "Traufeller, K"

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    Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients by Hanisch, F, Müller, C R, Grimm, D, Xue, L, Traufeller, K, Merkenschlager, A, Zierz, S, Deschauer, M

    Published in Clinical neuropathology (01-07-2007)
    “…Calpain-3 deficiency is the most common cause of autosomal-recessive limb girdle muscular dystrophy (LGMD2). The c.550delA mutation in the CAPN3 gene was…”
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    Journal Article
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    Acute persistent bilateral loss of vision by Gaul, C, Traufeller, K, Krasnianski, M, Herde, J, Müller, T

    “…Bilateral severe vision loss is a dramatic illness that requires extended diagnostics and immediate therapy. We report on a 37-year-old man who was admitted…”
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    Different sensitivities of CPT I and CPT II for inhibition by l-aminocarnitine in human skeletal muscle by Traufeller, Kathrin, Gellerich, Frank Norbert, Zierz, Stephan

    Published in Biochimica et biophysica acta (15-02-2004)
    “…l-Aminocarnitine ( l-AC) has been shown to inhibit carnitine palmitoyltransferases (CPT) in rat muscle and in rat liver. However, there are no reports on…”
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    Akuter persistierender bilateraler Visusverlust by Gaul, C., Traufeller, K., Krasnianski, M., Herde, J., Müller, T.

    “…Zusammenfassung Ein akuter bilateraler Visusverlust stellt eine dramatische Erkrankung dar, die sofortige umfangreiche Diagnostik, ausführliche…”
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    Journal Article