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PreviewIssue DateTitleAuthor(s)
2007Gene therapy for disorders affecting children progress and potentialAnson, D.; Fletcher, J.
2000Carbohydrate-deficient glycoprotein syndrome: Beyond the screenFletcher, J.; Matthijs, G.; Jaeken, J.; Van Schaftingen, E.; Nelson, P.
1999Liver transplantation for citrullinaemia improves intellectual functionFletcher, J.; Couper, R.; Moore, D.; Coxon, R.; Dorney, S.
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, 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.
2002The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatmentGaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
2002Urine amino and organic acids analysis in developmental delay or intellectual disabilityPoplawski, N.; Harrison, J.; Norton, W.; Wiltshire, E.; Fletcher, J.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, 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.