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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/s00134-008-1217-2 118   10 Cited 12 times in Scopus12 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 45   8 Cited 6 times in Scopus6 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 39 1 3 Cited 3 times in Scopus3 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 30   14 Cited 15 times in Scopus15 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 130   46 Cited 60 times in Scopus60 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.2012.01.003 130 11 18 Cited 17 times in Scopus17 5