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PreviewIssue DateTitleAuthor(s)
2000Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoateWiltshire, E.; Poplawski, N.; Harrison, R.; Fletcher, J.
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.
2003Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian populationNicholls, C.; Nelson, P.; Poplawski, N.; Chin, S.; Fong, B.; Solly, P.; Fietz, M.; Fletcher, J.
2002Urine amino and organic acids analysis in developmental delay or intellectual disabilityPoplawski, N.; Harrison, J.; Norton, W.; Wiltshire, E.; Fletcher, J.
2007Outcome of neonatal screening for medium-chain acyl-CoA dehydragenase deficiency in Australia: a cohort studyWilcken, B.; Haas, M.; Joy, P.; Wiley, V.; Chaplin, M.; Black, C.; Fletcher, J.; McGill, J.; Boneh, A.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.

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