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Preview	Issue Date	Title	Author(s)
	2000	Ornithine carbamoyltransferase deficiency presenting with chorea in a female	Wiltshire, E.; Poplawski, N.; Harbord, M.; Harrison, R.; Fletcher, J.
	2000	Carbohydrate-deficient glycoprotein syndrome: Beyond the screen	Fletcher, J.; Matthijs, G.; Jaeken, J.; Van Schaftingen, E.; Nelson, P.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
	2002	The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment	Gaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
	2002	Urine amino and organic acids analysis in developmental delay or intellectual disability	Poplawski, N.; Harrison, J.; Norton, W.; Wiltshire, E.; Fletcher, J.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing	Calvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.