Skip to main content

9 Result(s)

within N. Horn Remove this filter Internal Medicine Remove this filter

and

  1. No Access

    Article

    Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

    Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenti...

    R. Horváth, P. Freisinger, R. Rubio, T. Merl… in Journal of Inherited Metabolic Disease (2005)

  2. No Access

    Article

    Die urämische Enzephalopathie als Erstmanifestation eines akuten postrenalen Nierenversagens im Notarztdienst

    Neurocognitive disorders are often the reason to call for an emergency physician. We report on a 71 year old male patient who showed a sudden sensorial clouding caused by an uremic encephalopathy. The patient...

    N. Horn, B. Schöttler, R. Rossaint in Intensivmedizin und Notfallmedizin (1999)

  3. No Access

    Article

    Menkes disease: Underlying genetic defect and new diagnostic possibilities

    Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these fi...

    Z. Tümer, N. Horn in Journal of Inherited Metabolic Disease (1998)

  4. No Access

    Article

    Investigation of the copper binding sites in the Menkes disease protein, ATP7A

    P. Y. Jensen, N. Bonander, B. G. Karlsson… in Journal of Inherited Metabolic Disease (1998)

  5. No Access

    Article

    Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

    Z. Tümer, T. Tønnesen, N. Horn in Journal of Inherited Metabolic Disease (1994)

  6. No Access

    Article

    Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

    105 patients with Menkes disease have been diagnosed from64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of64Cu from the medium for 16 Menkes patients...

    T. Tønnesen, N. Horn in Journal of Inherited Metabolic Disease (1989)

  7. No Access

    Chapter

    Prenatal and Postnatal Diagnosis of Menkes Disease, an Inherited Disorder of Copper Metabolism

    105 patients with Menkes disease have been diagnosed from 64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of 64Cu from the medium for 16 Menkes patien...

    T. Tønnesen, N. Horn in Studies in Inherited Metabolic Disease (1989)

  8. No Access

    Article

    Menkes' disease: Clinical, therapeutic and biochemical studies

    K. E. Baerlocher, B. Steinmann, V. H. Rao… in Journal of Inherited Metabolic Disease (1983)

  9. No Access

    Article

    Menkes' X-linked disease: Prenatal diagnosis and carrier detection

    Increased64Cu uptake into cultured cells is a biochemical marker for mutant cells in Menkes' disease (McKusick 30940). Using this marker selective prenatal diagnosis has been carried out in more than 80 at-risk p...

    N. Horn in Journal of Inherited Metabolic Disease (1983)