Timothy M. Cox

Best Publications

• Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

  T Cox;R Lachmann;C Hollak;J Aerts

  954
  Citations

• Therapeutic goals in the treatment of Gaucher disease

  Gregory M. Pastores;Neal J. Weinreb;Hans Aerts;Generoso Andria

  546
  Citations

• Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

  Alison R. Hayman;Sheila J. Jones;Alan Boyde;Diane Foster

  444
  Citations

• Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention.

  Rolf G. Boot;Marri Verhoek;Maaike de Fost;Carla E. M. Hollak

  415
  Citations

• 3 Gaucher's disease: clinical features and natural history

  Timothy M. Cox;J. Paul Schofield

  345
  Citations

• Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease : increased release of interleukin-6 and interleukin-10

  M.J. Allen;B.J. Myer;A.M. Khokher;N. Rushton

  317
  Citations

• Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

  D. Elstein;C. Hollak;J. M. F. G. Aerts;S. van Weely

  311
  Citations

• The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.

  T. M. Cox;J. M. F. G. Aerts;G. Andria;M. Beck

  298
  Citations

• Juvenile Hemochromatosis Locus Maps to Chromosome 1q

  A. Roetto;A. Totaro;M. Cazzola;M. Cicilano

  286
  Citations

• The cellular pathology of lysosomal diseases.

  Timothy M Cox;M Begoña Cachón-González

  267
  Citations

• Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

  Carmela Lanzara;Antonella Roetto;Filomena Daraio;Silvain Rivard

  242
  Citations

• Iron binding proteins and influx of irom across the duodenal brush border: Evidence for specific lactotransferrin receptors in the human intestine

  Timothy M. Cox;Jöel Mazurier;Geneviève Spik;Jean Montreul

  240
  Citations

• Hereditary fructose intolerance.

  M Ali;P Rellos;T M Cox

  213
  Citations

• Purple acid phosphatase of the human macrophage and osteoclast. Characterization, molecular properties, and crystallization of the recombinant di-iron-oxo protein secreted by baculovirus-infected insect cells.

  A R Hayman;T M Cox

  205
  Citations

• Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.

  Cox Tm

  204
  Citations

• Twin pairs showing discordance of phenotype in adult Gaucher's disease

  R.H. Lachmann;I.R. Grant;D. Halsall;T.M. Cox

  203
  Citations

• Effective gene therapy in an authentic model of Tay-Sachs-related diseases.

  M. Begoña Cachón-González;Susan Z. Wang;Andrew Lynch;Robin Ziegler

  201
  Citations

• A potent inhibitor of Taq polymerase copurifies with human genomic DNA

  R. de Franchis;N. C. P. Cross;N. S. Foulkes;T. M. Cox

  200
  Citations

• Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

  Robin H Lachmann;Danielle te Vruchte;Emyr Lloyd-Evans;Gabriele Reinkensmeier

  199
  Citations

• Chapter Three Chapter Three Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

  Erasmus Mc;Rolf G. Boot;Marri Verhoek;Maaike de Fost

  0
  Citations