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Inborn errors of purine metabolism: clinical update and therapies.
Balasubramaniam S, Duley JA, Christodoulou J. Balasubramaniam S, et al. Among authors: christodoulou j. J Inherit Metab Dis. 2014 Sep;37(5):669-86. doi: 10.1007/s10545-014-9731-6. Epub 2014 Jun 28. J Inherit Metab Dis. 2014. PMID: 24972650
Inborn errors of pyrimidine metabolism: clinical update and therapy.
Balasubramaniam S, Duley JA, Christodoulou J. Balasubramaniam S, et al. Among authors: christodoulou j. J Inherit Metab Dis. 2014 Sep;37(5):687-98. doi: 10.1007/s10545-014-9742-3. Epub 2014 Jul 17. J Inherit Metab Dis. 2014. PMID: 25030255
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J. Nafisinia M, et al. Among authors: christodoulou j. JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26. JIMD Rep. 2017. PMID: 27344648 Free PMC article.
601 results