Browsing by Author Wevers, Ron A.

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Issue DateTitleAuthor(s)Citation
20103-Methylglutaconic Aciduria Type I Redefined: A Syndrome with Late-Onset LeukoencephalopathyWilcken, Bridget; Cruysberg, J R; Das, A M; Engelke, U.F.; Graham, A.; Hogg, S. L.; Illsinger, S.; Kluijtmans, Leo; Kremer, B. H.; Loupatty, F. J.; Morava, Eva; Wanders, R. J.; Wevers, Ron A.; Willemsen, Michel A.; Wortmann, S. B.; Children's Hospital Westmead: Paediatrics & Child Health3-Methylglutaconic Aciduria Type I Redefined: A Syndrome with Late-Onset Leukoencephalopathy, Neurology, vol.75, 12,pp 1079-1083
2006Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.Wilcken, Bridget; Abd Hamid, Umi M.; Critchley, Alison; Dwek, Raymond A.; Huijben, Karin M.L.C.; Lagerwerf, Aart J.; Lefeber, Dirk J.; Leroy, Jules G.; Morava, Eva; Royle, Louise; Rudd, Pauline M.; Wevers, Ron A.; Wopereis, Suzan; Children's Hospital Westmead: Paediatrics & Child HealthAbnormal glycosylation with hypersialylated O-glycans in patients with Sialuria., Biochimica et Biophysica Acta (2005), vol.1762,(6),2006,pp 598-607
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2002Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancyWilcken, Bridget; Earl, John W.; Fung, V. S. C.; Grattan-Smith, Padraic; Steenbergen-Spanjers, Gerry C.; Wevers, Ron A.; Children's Hospital Westmead: Paediatrics & Child HealthTyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy, Movement Disorders, vol.17,(2),2002,pp 354-359