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de Brouwer, Arjan P. M., Duley, John A. and Christodoulou, John (2008). Arts syndrome. In Roberta A. Pagon, Thomas D. Bird, Cynthia R. Dolan, Richard J.H. Smith and Karen G. Stephens (Ed.), GeneReviews (pp. x-x) Seattle, WA, U.S.A.: University of Washington, Seattle. 98  
Wilcken, Bridget, Haas, Marion, Joy, Pamela, Wiley, Veronica, Bowling, Francis, Carpenter, Kevin, Christodoulou, John, Cowley, David, Ellaway, Carolyn, Fletcher, Janice, Kirk, Edwin P., Lewis, Barry, McGill, Jim, Peters, Heidi, Pitt, James, Ranieri, Enzo, Yaplito-Lee, Joy and Boneh, Avihu (2009) Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years. Pediatrics, 124 2: E241-E248. doi:10.1542/peds.2008-0586 130   46 Cited 60 times in Scopus60 0
Balasubramaniam, Shanti, Duley, John A. and Christodoulou, John (2014) Inborn errors of purine metabolism: clinical update and therapies. Journal of Inherited Metabolic Disease, Online First 5: 669-686. doi:10.1007/s10545-014-9731-6 20   1 Cited 1 times in Scopus1 0
Balasubramaniam, Shanti, Duley, John A. and Christodoulou, John (2014) Inborn errors of pyrimidine metabolism: clinical update and therapy. Journal of Inherited Metabolic Disease, Online First 5: 687-698. doi:10.1007/s10545-014-9742-3 23   0 Cited 0 times in Scopus0 3
Chung, Seo-Kyung, Vanbellinghen, Jean-Francois, Mullins, Jonathan G. L., Robinson, Angela, Hantke, Janina, Hammond, Carrie L., Gilbert, Daniel F., Freilinger, Michael, Ryan, Monique, Kruer, Michael C., Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhy H., Harvey, Robert J., Lynch, Joseph W. and Rees, Mark I. (2010) Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. Journal of Neuroscience, 30 28: 9612-9620. doi:10.1523/JNEUROSCI.1763-10.2010 89   48 Cited 47 times in Scopus47 0
De Brouwer, Arjan P. M., Duley, John A. and Christodoulou, John (2013). Phosphoribosylpyrophosphate Synthetase Superactivity. In GeneReviews (pp. ---) Seattle, WA, United States: University of Washington. 52 6
Moran, Rocio, Kuilenburg, Andre B. P., Duley, John, Nabuurs, Sander B., Retno-Fitri, Aditia, Christodoulou, John, Roelofsen, Jeroen, Yntema, Helger G., Friedman, Neil R., van Bokhoven, Hans and de Brouwer, Arjan P. M. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. American Journal of Medical Genetics Part A, 158A 2: 455-460. doi:10.1002/ajmg.a.34428 47   5 Cited 4 times in Scopus4 0
Miller, David K, Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John and Taft, Ryan J. (2014) Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PLoS One, 9 8: e104879.1-e104879.6. doi:10.1371/journal.pone.0104879 29   0 Cited 0 times in Scopus0 0
Duley, John A., Christodoulou, John and de Brouwer, Arjan P. M. (2011) The PRPP synthetase spectrum: What does it demonstrate about nucleotide syndromes?. Nucleosides, Nucleotides and Nucleic Acids, 30 12: 1129-1139. doi:10.1080/15257770.2011.591747 33 1 9 Cited 7 times in Scopus7 0