Karin Tuschl

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
    Karin Tuschl
    Clinical and Molecular Genetics Unit, University College London Institute of Child Health, UK
    Am J Hum Genet 90:457-66. 2012
  2. doi request reprint Manganese and the brain
    Karin Tuschl
    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom Electronic address
    Int Rev Neurobiol 110:277-312. 2013
  3. doi request reprint Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder
    Karin Tuschl
    University College London Institute of Child Health with Great Ormond Street Hospital for Children NHS Trust, London, UK
    J Inherit Metab Dis 31:151-63. 2008

Detail Information

Publications3

  1. pmc Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
    Karin Tuschl
    Clinical and Molecular Genetics Unit, University College London Institute of Child Health, UK
    Am J Hum Genet 90:457-66. 2012
    ..This is an important step toward understanding Mn transport and its role in neurodegenerative processes...
  2. doi request reprint Manganese and the brain
    Karin Tuschl
    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom Electronic address
    Int Rev Neurobiol 110:277-312. 2013
    ..This chapter summarizes our current understanding of Mn homeostasis and the mechanisms of Mn toxicity and highlights the clinical disorders associated with Mn neurotoxicity. ..
  3. doi request reprint Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder
    Karin Tuschl
    University College London Institute of Child Health with Great Ormond Street Hospital for Children NHS Trust, London, UK
    J Inherit Metab Dis 31:151-63. 2008
    ..Chelation therapy with disodium calcium edetate combined with iron supplementation is the treatment of choice, lowering blood manganese levels significantly and improving clinical symptoms...