Browsing by Author Wilcken, Bridget

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Issue DateTitleAuthor(s)Citation
2011Ethical issues in geneticsWilcken, Bridget; Childrens Hospital Westmead: Paediatrics & Child HealthEthical issues in genetics, Journal of Paediatrics and Child Health, vol.47, 9, 2011,pp 668-671
2003Ethical issues in newborn screening and the impact of new technologiesWilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child HealthEthical issues in newborn screening and the impact of new technologies, European Journal of Pediatrics, vol.162,(Supplement 1),2003,pp S62-S66
2014Expanded newborn screening in New South Wales: missed casesBhattacharya, Kaustuv; Carpenter, Kevin; Tchan, Michel; Wilcken, Bridget; Wiley, Veronica; Estrella, Jane; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthExpanded newborn screening in New South Wales: missed cases, Journal of Inherited Metabolic Disease (JIMD), vol.37, 6, 2014,pp 881-887
2009Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsCarpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Bowling, Francis; Cowley, David; Fletcher, Janice; Haas, Marion; Joy, Pamela; Kirk, E. P. E.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; 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 Health; Children's Hospital Westmead: Paediatrics & Child HealthExpanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years, Pediatrics, vol.124, 2,pp e241-e248
2010Expanded newborn screening: reducing harm, assessing benefitWilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child HealthExpanded newborn screening: reducing harm, assessing benefit, Journal of Inherited Metabolic Disease (JIMD), vol.33, N/A,pp S205-S210
2007The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screeningWilcken, Bridget; Kerruish, Nicola J; Webster, Dianne; Wilson, Callum; Wiltshire, Esko; Children's Hospital Westmead: Paediatrics & Child HealthThe failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening, New Zealand Medical Journal, February 2005, vol.120,(1262),2007,pp U2727-U2727
2007Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgeryBennetts, Bruce; Chiong, Mary; Strasser, Simone; Wilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Central Clinical School: AW Morrow Gastroenterology and Liv; Children's Hospital Westmead: Paediatrics & Child HealthFatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery, Medical Journal of Australia, vol.186,(8),2007,pp 418-419
2010Fatty acid oxidation disorders: outcome and long-term prognosisWilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child HealthFatty acid oxidation disorders: outcome and long-term prognosis, Journal of Inherited Metabolic Disease (JIMD), vol.33, 5,pp 501-506
2015Fifty years of newborn screeningWilcken, Bridget; Wiley, Veronica; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthFifty years of newborn screening, Journal of Paediatrics and Child Health, vol.51, 1, 2015,pp 103-107
2007The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110Roscioli, Tony; Wilcken, Bridget; Buckley, Michael F; Cliffe, Simon T; Lindeman, Robert; Ruga, Ezia; Taylor, Peter; Wong, Melanie; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthThe first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110, Prenatal diagnosis, vol.27,(7),2007,pp 674-676
2014A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh SyndromeChristodoulou, John; Procopis, Peter; Wilcken, Bridget; Compton, Alison; Dasvarma, Ayan; et al, Various; Gandolfo, Luke; Lim, Sze Chern; Marum, Justine; McKenzie, Matthew; Peters, Heidi; Smith, Katherine; Stroud, David; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome, American Journal of Human Genetics, vol.94, 2, 2014,pp 209-222
2003Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervose (restrictive subtype)Bennetts, Bruce; Beumont, Pierre; Nunn, Kenneth; Russell, Janice; Urwin, R; Wilcken, Bridget; Lampropoulos, Basiliki; 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 HealthGene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervose (restrictive subtype), European Journal of Human Genetics, vol.11,(12),2003,pp 945-950
2003Geographical and ethnic variation of the 677C>T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wideWilcken, Bridget; Alembik, Y.; Bamforth, F.; Czeizel, A. E.; Dott, B.; et, al; Li, Zheng; Redlund, M.; Ritvanen, A.; Stoll, C.; Zhu, H W; Children's Hospital Westmead: Paediatrics & Child HealthGeographical and ethnic variation of the 677C>T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide, Journal of Medical Genetics, vol.40,(8),2003,pp 619-625
2008Glutaric aciduria type I: outcome following detection by newborn screeningBijarnia, S; Carpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Children's Hospital Westmead: Medicine; 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 Health; Children's Hospital Westmead: Paediatrics & Child HealthGlutaric aciduria type I: outcome following detection by newborn screening, Journal of Inherited Metabolic Disease (JIMD), vol.31,(4),2008,pp 503-507
2007Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)Wilcken, Bridget; Burlina, AB; Burlina, AP; Christensen, E; Dixon, M; Duran, M; et, al; Goodman, S. I.; Greenberg, CR; Koeller, DM; Kolker, Stefan; Leonard, J. V.; Children's Hospital Westmead: Paediatrics & Child HealthGuideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), Journal of inherited metabolic disease, vol.30,(1),2007,pp 5-22
2002Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5Green, Alisa; Rasko, John; Wilcken, Bridget; Lu, A.; Potter, S. J.; Behavioural & Comm Hlth Scienc; Central Clinical School: Centenary Institute; Children's Hospital Westmead: Paediatrics & Child HealthHartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5, Journal of inherited metabolic disease, vol.25,(6),2002,pp 437-448
2007Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screeningWilcken, Bridget; Black, Carly; Chaplin, Meredyth; Haas, Marion; Joy, Pamela; Wiley, Veronica; Children's Hospital Westmead: Paediatrics & Child HealthHealthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening, The Journal of Pediatrics, vol.151,(2),2007,pp 121-126
2012Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of HomocystinuriasAlodaib, Ahmed; Carpenter, Kevin; Christodoulou, John; Wilcken, Bridget; Wiley, Veronica; Wotton, Tiffany; Children's Hospital Westmead: Paediatrics & Child Health; 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 Health; Children's Hospital Westmead: Paediatrics & Child HealthHomocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias in JIMD Reports - Case and Research Reports, 2012/2, Springer, 2012, pp. 1-6
2014Hyperammonemic encephalopathy complicating bariatric surgery: A case study and review of the literatureEstrella, Jane; Tchan, Michel; Wilcken, Bridget; Talbot, Michael; Yee, Gary; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child HealthHyperammonemic encephalopathy complicating bariatric surgery: A case study and review of the literature, Surgery for Obesity and Related Diseases, vol.10, 3, 2014,pp e35-e38
2011An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samplesAlodaib, Ahmed; Carpenter, Kevin; Christodoulou, John; Wilcken, Bridget; Wiley, Veronica; Sim, K; Children's Hospital Westmead: Paediatrics & Child Health; 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 HealthAn improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples, Annals of clinical biochemistry, vol.48, 5, 2011,pp 468-470