Inborn errors of metabolism

  • Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
    Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, John K Bassett, Eleanor Cartwright, Sanjeev S Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew AM Morris, Elisabeth Jameson, Bernd C Schwahn, John H Walter, Sofia Douzgou, Helen Murphy, Chris Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A Monavari, Richard Martin, Anne Doolan, Senthil Senniappan, Simon C Ramsden, Simon A Jones, Siddharth Banka
  • Drug treatment of inborn errors of metabolism: a systematic review
    Majid Alfadhel, Khalid Al-Thihli, Hiba Moubayed, Wafaa Eyaid, Majed Al-Jeraisy