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  • Rodney D Gilbert, Louise K. Stanley, Darren J. Fowler, Elizabeth M. Angus, Steven A. Hardy, Timothy H. J. Goodship
  • Medicine
  • Clinical kidney journal
  • 2013 (First Publication: 1 August 2013)
  • A 2-year-old patient with a neuroblastoma developed haemolytic uraemic syndrome (HUS) following treatment with cisplatin and carboplatin. Following treatment with eculizumab, there was a substantialContinue Reading
  • Monika Oláhová, Kyle Samuel Thompson, +15 authors Robert W Taylor
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2016 (First Publication: 30 September 2016)
  • Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement.Continue Reading
  • Laura Melchionda, Tobias B. Haack, +26 authors Massimo Zeviani
  • Biology, Medicine
  • American journal of human genetics
  • 2014 (First Publication: 4 September 2014)
  • Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led toContinue Reading