- Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manKarin 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...
- Manganese and the brainKarin 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. ..
- Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin 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...