We seek to understand the molecular causation of inborn errors of metabolism and to improve their outcome – conducting therapeutic research principally in the field of lysosomal disorders – with special reference to those which affect the brain. As an Internist and Metabolic Physician,Professor Tim Cox, with Drs Patrick Deegan, Paul Flynn, William Griffiths and Penny Stein, has clinical interests in the Porphyrias, disorders of fructose and iron metabolism, as well as sundry inborn errors of metabolism, such as Alkaptonuria. [Read More...]
Griffiths, W.J.H., Mayr, R., McFarlane, I., Hermann, H., Halsall, D.J., Zoller, H. and Cox, TM (2010) Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. Hepatology 51: 788-795.
Deegan, P.B., Pavlova, E.V., Tindall, J., Stein, P., Bearcroft, P., Mehta, A., Hughes, D., Wraith, J.E., Cox, T.M. (2011). Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy. Medicine (Baltimore) 90: 52-60.
Sargeant T.J., Wang S., Bradley J., Smith N.J.C., Raha A.A., McNair R., Ziegler RJ, Cheng S.H., Cox T.M., Cachón-González M.B..(2011). Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain. Human Molecular Genetics 20: 4371-4380. [Read More...]