Browsing by Author Wilcken, Bridget

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 20 of 77  next >
Issue DateTitleAuthor(s)Citation
20023-hydroxyglutarate excretion is increased in keototic patients: implications for glutaryl-CoA dehydrogenase deficiency testingWilcken, Bridget; Boneh, A.; Carpenter, K.; Pitt, J.; Children's Hospital Westmead: Paediatrics & Child Health3-hydroxyglutarate excretion is increased in keototic patients: implications for glutaryl-CoA dehydrogenase deficiency testing, Journal of inherited metabolic disease, vol.25,(2),2002,pp 83-88
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
2009AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) MiceAlexander, Ian; Carpenter, Kevin; Kuchel, Philip; Wilcken, Bridget; Cunningham, Sharon C.; Spinoulas, Afroditi; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; School of Molecular Bioscience; Children's Hospital Westmead: Paediatrics & Child HealthAAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice, Molecular Therapy, vol.17, 8,pp 1340-1346
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
2005Acute presentation of childhood hypothyroidismCowell, Christopher; Wilcken, Bridget; Wiley, Veronica; Bayliss, Ursula; Hong, James; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAcute presentation of childhood hypothyroidism, Medical Journal of Australia, vol.182,(4),2005,pp 200-200
2002Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disordersCarpenter, Kevin; Christodoulou, John; Sim, Keow; Wilcken, Bridget; Hammond, Judith; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAcylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders, Metabolism-Clinical And Experimental, vol.51,(3),2002,pp 366-371
2002Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel noreprinephrine transporter gene promoter polymorphic regionBennetts, Bruce; Beumont, Pierre; Nunn, Kenneth; Russell, Janice; Urwin, R; Wilcken, Bridget; Clarke, S; Lampropolous, B; Tanner, S; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Psychological Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Psychological Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAnorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel noreprinephrine transporter gene promoter polymorphic region, Molecular Psychiatry, vol.7,(6),2002,pp 652-657
2016Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage studyJack, Michelle; Lain, Samantha; Nassar, Natasha; Roberts, Christine; Wilcken, Bridget; Wiley, Veronica; Bentley, Jason; Northern Clinical School: Medicine; School of Public Health: Public Health; School of Public Health: Public Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAssociation between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study, The Lancet Diabetes & Endocrinology, vol.4, 9, 2016,pp 756-765
2006Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function.Wilcken, Bridget; Green, Kathryn; Sim, Ah Siew; Wang, Jun; Wilcken, David E. L.; Children's Hospital Westmead: Paediatrics & Child HealthAsymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function., Journal of inherited metabolic disease, vol.29,(1),2006,pp 30-37
2014Cirrhosis Associated with Pyridoxal 5'-Phosphate Treatment of Pyridoxamine 5'-Phosphate Oxidase DeficiencyEarl, John; Arbuckle, Susan; Clayton, Peter; Schmitt, Bernhard; Singh, Harry; Stormon, Michael; Sudarsanam, Annapurna; Webster, Richard; Wilcken, Bridget; Childrens Hospital Westmead: Paediatrics & Child HealthCirrhosis Associated with Pyridoxal 5'-Phosphate Treatment of Pyridoxamine 5'-Phosphate Oxidase Deficiency in JIMD Reports Volume 17, SSIEM and Springer-Verlag, 2014, pp. 67-70
2006'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.Wilcken, Bridget; Deodato, Federica; Dionisi-Vici, Carlo; Rhead, William; Roschinger, Wulf; Children's Hospital Westmead: Paediatrics & Child Health'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry., Journal of inherited metabolic disease, vol.29,(2-3),2006,pp 383-389
2011Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative projectWilcken, Bridget; Wiley, Veronica; Abdenur, Jose E.; Abdulrahman, Mahera; Adair, Ona; Ahlman, Henrik; Allen, Jennifer J.; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Cameron, Cynthia A.; et al, various; McHugh, David M. S.; Nuaimi, Shahira Ahmed Al; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthClinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project, Genetics in medicine, vol.13, 3, 2011,pp 230-254
2008The consequences of extended newborn screening programmes: Do we know who needs treatment?Wilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child HealthThe consequences of extended newborn screening programmes: Do we know who needs treatment?, Journal of Inherited Metabolic Disease (JIMD), vol.31,(2),2008,pp 173-177
2010Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiencyBennetts, Bruce; Ellaway, Carolyn; Peters, Gregory; Wilcken, Bridget; Balasubramaniam, S; Rudduck, Christina; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthContiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, vol.99, 1,pp 34-41
2010Current Issues Regarding Treatment of Mitochondrial Fatty Acid Oxidation DisordersWilcken, Bridget; Bastin, Jean; Gillingham, Melanie; Morris, Andrew; Spiekerkoetter, Ute; Wijburg, Frits; Children's Hospital Westmead: Paediatrics & Child HealthCurrent Issues Regarding Treatment of Mitochondrial Fatty Acid Oxidation Disorders, Journal of Inherited Metabolic Disease (JIMD), vol.33, 5,pp 555-561
2017Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening EraGaskin, Kevin; Shalhoub, Carolyn; Wilcken, Bridget; Wiley, Veronica; Coffey, Michael J.; Gentin, Natalie; Hilton, Jodi; Junek, Rosie; Nightingale, Scott; Ooi, Chee Y; Whitaker, Viola; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthDifferences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era, The Journal of Pediatrics, vol.181, N/A, 2017,pp 137-145
2007Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionWilcken, Bridget; Andria, Generoso; Blom, Henk; Boers, Godfried H. J.; Cooper, David N.; Gaustadnes, Mette; Kluijtmans, Leo; Koch, Hans; Kozich, Viktor; Kraus, Jan; Krawczak, Michael; Laszlo, Aranka; Linnebank, Michael; Naughten, Eileen; Ohura, Toshihiro; Pepe, Guglielmina; Pronicka, Ewa; Rickards, Olga; Sebastio, Gianfranco; Skovby, Flemming; Sokolova, Jitka; Vyletal, Peter; Wilcken, David E. L.; Yap, Sufin; Children's Hospital Westmead: Paediatrics & Child HealthDiversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion, Human Mutation, vol.28,(3),2007,pp 255-264
2009Economic evaluation of tandem mass spectrometry newborn screening in AustraliaWilcken, Bridget; Chaplin, Meredyth; Haas, Marion; Joy, Pamela; Norman, Richard; Children's Hospital Westmead: Paediatrics & Child HealthEconomic evaluation of tandem mass spectrometry newborn screening in Australia, Pediatrics (English Edition), vol.123,(2),2009,pp 451-457
2007The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological studyChristodoulou, John; Wilcken, Bridget; Ghosh-Jerath, Suparna; Green, Kathryn; Joy, Pamela; Kemp, Allan; Rae, Caroline; Rocca, Antonella; Schindeler, Suzanne; Thompson, Susan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study, Molecular Genetics and Metabolism (2005), vol.91,(N/A),2007,pp 48-54
2016Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridineCarpenter, Kevin; Pinner, Jason; Wilcken, Bridget; Bamshad, Michael; Duley, John; Henman, Michael; Marshall, George; Ooi, Chee Y; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthElevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine, Molecular Genetics and Metabolism, vol.119, N/A, 2016,pp 83-90