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PreviewIssue DateTitleAuthor(s)
2004Insuflon versus subcutaneous injection for cytokine administration in children and adolescents: a randomised crossover studyDyer, S.; Collins, C.; Baghurst, P.; Saxon, B.; Meachan, B.
2004Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Harmatz, P.; Whitley, C.; Waber, L.; Pais, R.; Steiner, R.; Plecko, B.; Kaplan, P.; Simon, J.; Butensky, E.; Hopwood, 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.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2004Folic acid improves endothelial function in children and adolescents with type 1 diabetesPena Vargas, A.; Wiltshire, E.; Gent, R.; Hirte, C.; Couper, J.
2004Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemiaMorwood, K.; Bourne, H.; Philpot, R.; Gold, M.; Gillis, D.; Benson, E.
2004Asthma in emergency departments: combined adult and paediatric versus paediatric only centresPowell, C.; Raftos, J.; Kerr, D.; Rosengarten, P.; Kelly, A.
2004Mutations of the mitochondrial ND1 gene as a cause of MELASKirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R.
2004Pancreatic β-cell function and immune responses to insulin after administration of intranasal insulin to humans at risk for type 1 diabetesHarrison, L.; Honeyman, B.; Steele, C.; Stone, N.; Sarugeri, E.; Bonifacio, E.; Couper, J.; Coleman, P.