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Panlaqui, Ogee Mer, Tran, Khoa, Johns, Amanda, McGill, Jim and White, Hayden (2008) Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylast deficiency. Intensive Care Medicine, 34 10: 1922-1924. doi:10.1007/s00134-008-1217-2 115   10 Cited 10 times in Scopus10 0
Schoffer, Kerrie L., O'Sullivan, John D. and McGill, Jim (2006) Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. Movement Disorders, 21 6: 869-872. doi:10.1002/mds.20804 43   8 Cited 5 times in Scopus5 0
Sharman, Rachael, Sullivan, Karen, Young, Ross McD. and McGill, Jim (2012) Depressive symptoms in adolescents with early and continuously treated phenylketonuria: Associations with phenylalanine and tyrosine levels. Gene, 504 2: 288-291. doi:10.1016/j.gene.2012.05.007 38 1 3 Cited 2 times in Scopus2 1
Goldblatt, Jack, Fletcher, Janice M., McGill, Jim, Szer, Jeffrey and Wilson, Meredith (2011) Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells, Molecules, and Diseases, 46 1: 107-110. doi:10.1016/j.bcmd.2010.05.002 29   13 Cited 14 times in Scopus14 6
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 129   46 Cited 59 times in Scopus59 0
Andreas Zankl, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitche, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terha, Paulien and Brown, Matthew A. (2012) Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90 3: 494-501. doi:10.1016/j.ajhg.2012.01.003 129 11 17 Cited 17 times in Scopus17 5