B Wilcken

Summary

Affiliation: The Children's Hospital at Westmead
Country: Australia

Publications

  1. ncbi request reprint Problems in the management of urea cycle disorders
    Bridget Wilcken
    The Children s Hospital at Westmead and the Discipline of Paediatrics, University of Sydney, Sydney, Australia
    Mol Genet Metab 81:S86-91. 2004
  2. doi request reprint Leukoencephalopathies associated with disorders of cobalamin and folate metabolism
    Bridget Wilcken
    Discipline of Paediatrics, University of Sydney, Sydney, Australia
    Semin Neurol 32:68-74. 2012
  3. doi request reprint The consequences of extended newborn screening programmes: do we know who needs treatment?
    B Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Westmead, NSW, Australia
    J Inherit Metab Dis 31:173-7. 2008
  4. doi request reprint Screening for disease in the newborn: the evidence base for blood-spot screening
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Sydney, New South Wales, Australia
    Pathology 44:73-9. 2012
  5. ncbi request reprint Ethical issues in newborn screening and the impact of new technologies
    Bridget Wilcken
    The New South Wales Newborn Screening and Biochemical Genetics Departments, and the University of Sydney, The Children s Hospital at Westmead, Locked Bag 4001, NSW 2145, Westmead, Australia
    Eur J Pediatr 162:S62-6. 2003
  6. ncbi request reprint Disorders of the carnitine cycle and detection by newborn screening
    Bridget Wilcken
    NSW Biochemical Genetics and Newborn Screening Service, The Children s Hospital at Westmead and University of Sydney, Australia
    Ann Acad Med Singapore 37:71-3. 2008
  7. ncbi request reprint Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: the negative case
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Australia
    Ann Acad Med Singapore 37:36-3. 2008
  8. doi request reprint Newborn screening
    Bridget Wilcken
    The Children s Hospital, Westmead, Australia
    Pathology 40:104-15. 2008
  9. doi request reprint Expanded newborn screening: outcome in screened and unscreened patients at age 6 years
    Bridget Wilcken
    Department of Biochemical Genetics, Children s Hospital at Westmead, Sydney, Australia
    Pediatrics 124:e241-8. 2009
  10. ncbi request reprint Improving child health--newborn screening for all?
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Sydney, Australia
    Ann Acad Med Singapore 37:3. 2008

Collaborators

Detail Information

Publications78

  1. ncbi request reprint Problems in the management of urea cycle disorders
    Bridget Wilcken
    The Children s Hospital at Westmead and the Discipline of Paediatrics, University of Sydney, Sydney, Australia
    Mol Genet Metab 81:S86-91. 2004
    ..quot;..
  2. doi request reprint Leukoencephalopathies associated with disorders of cobalamin and folate metabolism
    Bridget Wilcken
    Discipline of Paediatrics, University of Sydney, Sydney, Australia
    Semin Neurol 32:68-74. 2012
    ..Current diagnosis is often by newborn screening. These disorders all show autosomal recessive inheritance, and all are treatable, although with variable outcome...
  3. doi request reprint The consequences of extended newborn screening programmes: do we know who needs treatment?
    B Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Westmead, NSW, Australia
    J Inherit Metab Dis 31:173-7. 2008
    ..Some of these disorders appear benign or nearly so, and in the present state of knowledge should clearly not be included in routine newborn screening panels...
  4. doi request reprint Screening for disease in the newborn: the evidence base for blood-spot screening
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Sydney, New South Wales, Australia
    Pathology 44:73-9. 2012
    ..The most important aspect of increasing effectiveness is the full integration of the screening program, diagnostic laboratories, and the clinical service. This is already in place in Australasia...
  5. ncbi request reprint Ethical issues in newborn screening and the impact of new technologies
    Bridget Wilcken
    The New South Wales Newborn Screening and Biochemical Genetics Departments, and the University of Sydney, The Children s Hospital at Westmead, Locked Bag 4001, NSW 2145, Westmead, Australia
    Eur J Pediatr 162:S62-6. 2003
    ..Major ethical problems are likely with the ability to detect adult-onset disorders or susceptibility to these in babies. Under what circumstances would this be ethical? We need to start debating these issues...
  6. ncbi request reprint Disorders of the carnitine cycle and detection by newborn screening
    Bridget Wilcken
    NSW Biochemical Genetics and Newborn Screening Service, The Children s Hospital at Westmead and University of Sydney, Australia
    Ann Acad Med Singapore 37:71-3. 2008
    ..All 4 disorders can be detected by newborn screening, with variable sensitivity. Late-onset CPTII probably cannot be detected. Carnitine transporter, CPTI and late-onset CPTII have proven treatment strategies...
  7. ncbi request reprint Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: the negative case
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Australia
    Ann Acad Med Singapore 37:36-3. 2008
    ..Reported here are some of the questioning arguments...
  8. doi request reprint Newborn screening
    Bridget Wilcken
    The Children s Hospital, Westmead, Australia
    Pathology 40:104-15. 2008
    ..Newborn screening has entered a new and exciting phase, with an explosion of new treatments, new technologies, and, possibly in the future, new preventive strategies...
  9. doi request reprint Expanded newborn screening: outcome in screened and unscreened patients at age 6 years
    Bridget Wilcken
    Department of Biochemical Genetics, Children s Hospital at Westmead, Sydney, Australia
    Pediatrics 124:e241-8. 2009
    ..Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia...
  10. ncbi request reprint Improving child health--newborn screening for all?
    Bridget Wilcken
    The Children s Hospital at Westmead and University of Sydney, Sydney, Australia
    Ann Acad Med Singapore 37:3. 2008
    ..If new programmes are approached with proper caution maximal benefit will be achieved from newborn screening, which is one of the few clearly effective preventive strategies in healthcare...
  11. ncbi request reprint Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    Bridget Wilcken
    New South Wales Newborn Screening Programme, The Children s Hospital at Westmead, Sydney, NSW, Australia
    N Engl J Med 348:2304-12. 2003
    ..We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders...
  12. ncbi request reprint Newborn screening methods for cystic fibrosis
    Bridget Wilcken
    New South Wales Newborn Screening Programme, The Children s Hospital at Westmead, Sydney, Australia
    Paediatr Respir Rev 4:272-7. 2003
    ..Careful counselling is needed for the families of these carriers...
  13. doi request reprint Fatty acid oxidation disorders: outcome and long-term prognosis
    Bridget Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Westmead, NSW, Australia
    J Inherit Metab Dis 33:501-6. 2010
    ..Late-onset CPT II is characterised only by episodic rhabdomyolysis on severe exercise. CPT type IA deficiency may often be benign, although early presentation with hypoketotic hypoglycaemia certainly occurs...
  14. doi request reprint Expanded newborn screening: reducing harm, assessing benefit
    Bridget Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Hawkesbury Road, Westmead, NSW, Australia
    J Inherit Metab Dis 33:S205-10. 2010
    ..The study was too small to provide conclusions for individual disorders other than for medium-chain acyl-CoA dehydrogenase deficiency...
  15. ncbi request reprint Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening
    E S Tan
    Genetic Metabolic Disorders Service, The Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 90:446-8. 2007
    ..The remaining patients could not have been diagnosed by newborn screening without an unacceptably high recall rate. We conclude that babies with NKHG are not usually identifiable by current newborn screening strategies...
  16. ncbi request reprint Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
    Bridget Wilcken
    Children s Hospital at Westmead, Sydney, NSW 2145, Australia
    Lancet 369:37-42. 2007
    ..Our aim was to assess the overall effectiveness of neonatal screening for MCAD deficiency in Australia...
  17. ncbi request reprint More evidence to favour newborn screening for cystic fibrosis
    Bridget Wilcken
    Children s Hospital at Westmead, NSW 2145, and University of Sydney, Sydney, NSW 2006, Australia
    Lancet 369:1146-7. 2007
  18. doi request reprint Ethical issues in genetics
    Bridget Wilcken
    Biochemical Genetics and Newborn Screening Departments, The Children s Hospital at Westmead, Sydney, New South Wales, Australia
    J Paediatr Child Health 47:668-71. 2011
    ..New technologies and the falling cost of whole genome sequencing ensure that ethics will be a prominent concern for clinical genetics...
  19. ncbi request reprint Recent advances in newborn screening
    B Wilcken
    Western Sydney Genetics Program, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    J Inherit Metab Dis 30:129-33. 2007
    ..Attitudes may be changing about what it is desirable to include in a newborn screening programme, and this will indeed pose new ethical dilemmas...
  20. ncbi request reprint Rare diseases and the assessment of intervention: what sorts of clinical trials can we use?
    B Wilcken
    The Children s Hospital at Westmead, New South Wales, Sydney, Australia
    J Inherit Metab Dis 24:291-8. 2001
    ....
  21. ncbi request reprint Newborn screening for cystic fibrosis: techniques and strategies
    Bridget Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Hawkesbury Road, Westmead, NSW 2145, Australia
    J Inherit Metab Dis 30:537-43. 2007
    ..Further careful study of performance and costs of various strategies is needed...
  22. doi request reprint Newborn screening: how are we travelling, and where should we be going?
    Bridget Wilcken
    The Children s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia
    J Inherit Metab Dis 34:569-74. 2011
    ..It is likely that there will be pressure to change the aims of newborn screening to encompass "personalised medicine". We must all prepare in a thoughtful way for these future challenges...
  23. pmc Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
    K Carpenter
    Biochemical Genetics Service, The Children s Hospital at Westmead, Sydney, Australia
    Arch Dis Child Fetal Neonatal Ed 85:F105-9. 2001
    ..To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients...
  24. ncbi request reprint Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening
    Marion Haas
    Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia
    J Pediatr 151:121-6, 126.e1. 2007
    ..MCAD deficiency is a potentially lethal disorder of fatty-acid oxidation...
  25. doi request reprint An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples
    A Alodaib
    Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Ann Clin Biochem 48:468-70. 2011
    ..We report an improved ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for the determination of BCAAs and Allo-Ile in dried blood spot (DBS) samples...
  26. doi request reprint Glutaric aciduria type I: outcome following detection by newborn screening
    S Bijarnia
    Genetic Metabolic Disorders Service, The Children s Hospital at Westmead, Sydney, NSW, Australia
    J Inherit Metab Dis 31:503-7. 2008
    ..Our data support previous findings that early diagnosis reduces neurological complications, but show that even with early diagnosis and careful management severe complications may ensue in some...
  27. ncbi request reprint Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
    V Wiley
    NSW Newborn Screening Program, The Royal Alexandra Hospital for Children, Sydney, Australia
    Acta Paediatr Suppl 88:48-51. 1999
    ..This coupled with the ability of the database to provide ratios of various analytes gives excellent screening specificity and sensitivity for the detection of at least 40 rare inborn errors of metabolism...
  28. ncbi request reprint Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
    B Wilcken
    New South Wales Newborn Screening and Biochemical Genetics Services, The New Children's Hospital, Westmead, Sydney, Australia
    J Pediatr 138:581-4. 2001
    ..Two of 4 babies subsequently diagnosed clinically with the carnitine transporter defect had a free carnitine level in the neonatal blood sample low enough to be detected by screening...
  29. ncbi request reprint Sweat testing following newborn screening for cystic fibrosis
    J Massie
    Department of Respiratory Medicine, Royal Alexandra Hospital for Children, Sydney, Australia
    Pediatr Pulmonol 29:452-6. 2000
    ..Infants with sweat Cl(-) levels of 40-60 mmol/L require further investigation and review, but they almost certainly have CF. The Cl(-):Na(+) ratio does not appear useful in establishing a diagnosis of CF in infants...
  30. ncbi request reprint Investigation of epistasis between the serotonin transporter and norepinephrine transporter genes in anorexia nervosa
    Ruth E Urwin
    Department of Psychological Medicine, The Children s Hospital at Westmead, Westmead, NSW, Australia
    Neuropsychopharmacology 28:1351-5. 2003
    ....
  31. doi request reprint Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome
    Pamela Joy
    The Children s Hospital at Westmead, Developmental Cognitive Neuropsychology Research Unit, Sydney, Australia
    Child Neuropsychol 15:8-20. 2009
    ..Early diagnosis and greater number of hospitalizations were related to higher verbal, communication, and socialization skills. Overall, our results highlight the importance of early diagnosis and management for children with MCADD...
  32. doi request reprint Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for
    Karen McKay
    Department of Respiratory Medicine, The Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, The University of Sydney, Westmead 2145, NSW, Australia
    Paediatr Respir Rev 9:290-4. 2008
    ..This review summarises the arguments in favour of newborn screening for CF...
  33. ncbi request reprint Perimortem laboratory investigation of genetic metabolic disorders
    John Christodoulou
    Western Sydney Genetics Program, The Children s Hospital at Westmead, NSW, Australia
    Semin Neonatol 9:275-80. 2004
    ..In addition, suggested guidelines are given for the collection of relevant samples in the perimortem period, the aim being to maximize the chance of identifying any underlying genetic metabolic disorder...
  34. ncbi request reprint Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype)
    Ruth E Urwin
    Department of Psychological Medicine, The Children s Hospital at Westmead, Westmead, NSW, Australia
    Eur J Hum Genet 11:945-50. 2003
    ..4, 95% CI 1.1-6.0). These results suggest important involvement of the noradrenergic system in the biological underpinnings of AN-R...
  35. doi request reprint Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency
    S Balasubramaniam
    Genetic Metabolic Disorders Service, The Children s Hospital at Westmead, Sydney, NSW 2145, Australia
    Mol Genet Metab 99:34-41. 2010
    ....
  36. ncbi request reprint Newborn screening may fail to identify intermediate forms of maple syrup urine disease
    K Bhattacharya
    Genetic Metabolic Service, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    J Inherit Metab Dis 29:586. 2006
    ..Metabolic diseases still need to be considered in appropriate clinical situations later in life...
  37. ncbi request reprint Information overload--new technologies, can we store the data?
    Veronica Wiley
    The NSW Newborn Screening Program The Children s Hospital at Westmead, Sydney, NSW, Australia
    Southeast Asian J Trop Med Public Health 34:59-62. 2003
    ..Many new analytical technologies can only be incorporated into routine programs as a result of advances in hardware and software allowing better access to, and storage of, data...
  38. ncbi request reprint Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
    Leigh Waddell
    The NSW Newborn Screening Programme, Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 87:32-9. 2006
    ..In the meantime, all MCAD patients identified by newborn screening have, by definition, a functional defect and require careful clinical management...
  39. doi request reprint Economic evaluation of tandem mass spectrometry newborn screening in Australia
    Richard Norman
    Centre for Health Economics Research and Evaluation, University of Technology, Sydney, PO Box 123, Broadway, Sydney 2007, Australia
    Pediatrics 123:451-7. 2009
    ..The goal was to investigate the cost-effectiveness of tandem mass spectrometry screening for the detection of inborn metabolic errors in an Australian setting...
  40. doi request reprint Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia
    Helena K Gleeson
    Institute of Endocrinology and Diabetes, The Children s Hospital at Westmead, New South Wales, Australia
    J Paediatr Child Health 44:554-9. 2008
    ....
  41. ncbi request reprint Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk
    D E Wilcken
    Department of Cardiovascular Medicine, Prince of Wales Hospital, Sydney, Australia
    Arterioscler Thromb Vasc Biol 20:1199-202. 2000
    ..EC-SOD levels may be relevant to the pathogenesis of vascular disease in other patient groups...
  42. ncbi request reprint Neonatal screening for cystic fibrosis: present and future
    B Wilcken
    New Children s Hospital, Westmead, Sydney, Australia
    Acta Paediatr Suppl 88:33-5. 1999
    ..Because of this, it is unlikely that further trials will take place. It may be that the onus now is on those who do not support screening to justify this stance to parents who may favour it...
  43. ncbi request reprint Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5
    S J Potter
    Gene Therapy Research Unit, Centenary Institute of Cancer Medicine and Cell Biology, NSW, Australia
    J Inherit Metab Dis 25:437-48. 2002
    ..In the six unrelated Hartnup pedigrees studied, examination of linkage at 19q13.3, polymorphisms in the coding sequence and quantitation of expression of SLC1A5 did not suffice to explain the defect in neutral amino acid transport...
  44. ncbi request reprint Pregnancy and argininosuccinic aciduria
    S Worthington
    Western Sydney Genetics Program, Westmead, Australia
    J Inherit Metab Dis 19:621-3. 1996
    ..Furthermore, it would appear that argininosuccinate is not teratogenic to the development of the human fetus...
  45. ncbi request reprint Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
    M Potter
    New South Wales Biochemical Genetics Service, The Children's Hospital at Westmead, Sydney, Australia
    J Inherit Metab Dis 24:5-14. 2001
    ..The test appears at least as sensitive and specific as the allopurinol test, and is more convenient because of the short period of sample collection...
  46. ncbi request reprint Newborn screening--is it really that simple?
    Veronica Wiley
    The Children s Hospital at Westmead, Sydney, NSW, Australia
    Southeast Asian J Trop Med Public Health 34:107-10. 2003
    ..MSMS has shown a sensitivity of 95.9% and specificity of 99.8% in our laboratory with a positive predictive value of 18%...
  47. ncbi request reprint Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations
    Keow Giak Sim
    Department of Paediatrics and Child Health, University of Sydney, NSW, Australia
    Mol Genet Metab 76:327-34. 2002
    ..This would be particularly useful information for the asymptomatic/pre-symptomatic FAO-deficient infant detected by the expanded newborn screening program, in whom the risk of developing symptoms later in life is not known...
  48. pmc The mild form of menkes disease: a 34 year progress report on the original case
    M C Tchan
    Department of Genetic Medicine, Westmead Hospital, 2145, Sydney, Australia
    JIMD Rep 9:81-4. 2013
    ..He has been under long-term copper therapy for more than 30 years and he continues to enjoy a good quality of life...
  49. ncbi request reprint Clinical approach to inborn errors of metabolism presenting in the newborn period
    C J Ellaway
    Western Sydney Genetics Program, Royal Alexandra Hospital for Children and Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
    J Paediatr Child Health 38:511-7. 2002
    ..We also provide guidelines for the stabilization and initial management of infants at high risk of a metabolic disorder...
  50. ncbi request reprint Sialuria: a second case
    B Wilcken
    Oliver Latham Laboratory, NSW Department of Health, Sydney, Australia
    J Inherit Metab Dis 10:97-102. 1987
    ..The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder...
  51. doi request reprint n of 1 trial for an ornithine transcarbamylase deficiency carrier
    A Hackett
    Hunter Genetics, P O Box 84, Waratah, Newcastle, NSW 2298, Australia University of Newcastle, NSW, Australia
    Mol Genet Metab 94:157-61. 2008
    ..We propose that other rare metabolic conditions may be amenable to such trials, if the benefit of treatment is in doubt...
  52. ncbi request reprint Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region
    R E Urwin
    Department of Psychological Medicine, The Children s Hospital at Westmead, Westmead, NSW, Australia
    Mol Psychiatry 7:652-7. 2002
    ..806, df = 1, P = 0.0052, odds ratio: 2.1) from parent to child with restricting AN (AN-R), suggesting that L4 or a DNA variant in linkage disequilibrium with it, doubles the risk for developing AN-R...
  53. ncbi request reprint Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders
    Keow G Sim
    New South Wales Biochemical Genetics Service, The Children s Hospital at Westmead, Sydney, Australia au
    Clin Chim Acta 323:37-58. 2002
    ..Occasionally a stress test in vivo may be required. At other times there may be no firm diagnosis achieved...
  54. ncbi request reprint Mini-symposium: newborn screening for inborn errors of metabolism--clinical effectiveness
    Bridget Wilcken
    The Children s Hospital at Westmead, and the Discipline of Paediatrics, University of Sydney, Locked Bag 4001, Westmead NSW, 2145, Sydney, Australia
    J Inherit Metab Dis 29:366-9. 2006
    ..Since it seems inevitable that screening may often be implemented ahead of hard evidence of benefit, ongoing evaluation of clinical effectiveness is a necessary part of any screening programme...
  55. ncbi request reprint An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches
    Bridget Wilcken
    The Children s Hospital at Westmead, Sydney, Australia
    Southeast Asian J Trop Med Public Health 34:198-201. 2003
    ..Many patients with inborn errors do not need any specific dietary therapy, (eg those with storage or neurodegenerative disorders), although all children benefit from an optimal diet, and sick children need this especially...
  56. ncbi request reprint Evaluating outcomes of newborn screening programs
    Bridget Wilcken
    New South Wales Newborn Screening Program, The Children s Hospital at Westmead, Sydney, Australia
    Southeast Asian J Trop Med Public Health 34:13-8. 2003
    ..Good studies of harm, mainly from false positive results, are urgently needed. The problem of costs and benefits is difficult, and a "reasonable balance" rather than positive cost/benefit ratio seems desirable...
  57. ncbi request reprint Iodine status in pregnant women and their newborns: are our babies at risk of iodine deficiency?
    Cheryl A Travers
    Central Coast Public Health Unit, Northern Sydney Central Coast Area Health Service, Gosford, NSW, Australia
    Med J Aust 184:617-20. 2006
    ..To determine whether pregnant women and their newborns show evidence of iodine deficiency, and to examine the correlation between maternal urine iodine concentration (UIC) and newborn thyroid-stimulating hormone (TSH) level...
  58. ncbi request reprint The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment
    Mette Gaustadnes
    Cardiovascular Genetics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia
    Hum Mutat 20:117-26. 2002
    ..The G307S mutation always resulted in a severe non-responsive phenotype, whereas I278T resulted in a milder B6 responsive phenotype. From our results, we were also able to establish three other mild mutations: P49L, R369C, and V371M...
  59. ncbi request reprint Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery
    Mary Anne Chiong
    Western Sydney Genetics Program, The Children s Hospital at Westmead, Sydney, NSW
    Med J Aust 186:418-9. 2007
  60. pmc AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice
    Sharon C Cunningham
    Gene Therapy Research Unit, Children s Medical Research Institute and The Children s Hospital at Westmead, Wentworthville, New South Wales, Australia
    Mol Ther 17:1340-6. 2009
    ..This loss of expression in the neonatal liver is the consequence of hepatocellular proliferation and presents an added challenge to human therapy...
  61. ncbi request reprint The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study
    Suzanne Schindeler
    Western Sydney Genetics Program, The Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 91:48-54. 2007
    ....
  62. ncbi request reprint Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course
    Mary Anne Chiong
    Western Sydney Genetics Program, Children s Hospital at Westmead, Sydney, New South Wales, Australia
    Pediatr Neurol 37:283-6. 2007
    ..At age 7 years, she cannot walk, but has borderline normal intelligence. Leukodystrophy and a normal cerebrospinal fluid:plasma glycine ratio were not previously reported in late-onset nonketotic hyperglycinemia...
  63. doi request reprint International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions
    Richard Norman
    Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia
    Health Policy 89:252-60. 2009
    ....
  64. ncbi request reprint Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy
    Padraic J Grattan-Smith
    Department of Neurology, Royal Alexandra Hospital for Children Westmead, Sydney, Australia
    Mov Disord 17:354-9. 2002
    ..Manifestations of norepinephrine deficiency include ptosis, miosis, profuse oropharyngeal secretions, and postural hypotension. Hypersensitivity to L-dopa was a particular management problem in this infant...
  65. ncbi request reprint Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders
    Keow Giak Sim
    New South Wales Biochemical Genetics Service, Western Sydney Genetics Program, The Children s Hospital at Westmead, Sydney, Australia
    Metabolism 51:366-71. 2002
    ..Awareness of this diagnostic pitfall will aid in the selection of subsequent confirmatory tests and therapeutic options...
  66. doi request reprint Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis
    Bridget Wilcken
    J Paediatr Child Health 44:232-3; author reply 233. 2008
  67. ncbi request reprint Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
    Bridget Wilcken
    Lancet 359:627-8. 2002
  68. ncbi request reprint The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening
    Callum Wilson
    Newborn Metabolic Screening Unit, LapPlus, Auckland City Hospital, Auckland
    N Z Med J 120:U2727. 2007
    ....
  69. ncbi request reprint Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
    T B Nga Ly
    Department of General Paediatrics, Ruprecht Karls University, Heidelberg, Germany
    Hum Mutat 21:401-7. 2003
    ..Further work is required to identify external or genetic factors associated with development of clinical problems in patients with MGA1...
  70. ncbi request reprint 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
    Carlo Dionisi-Vici
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:383-9. 2006
    ..This paper describes the long-term outcome and the impact of expanded newborn screening on the so-called 'classical' organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria)...
  71. ncbi request reprint Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery
    Aidan McElduff
    Department of Endocrinology, Royal North Shore Hospital, St Leonards 2065, Australia
    J Clin Endocrinol Metab 90:6361-3. 2005
    ..Measured TSH levels vary with methodology and are influenced by external factors including iodine exposure at time of delivery...
  72. pmc Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening
    Marco Cipolli
    Cystic Fibrosis Centre, Azienda Ospedaliera di Verona, Verona, Italy
    Arch Dis Child 92:842-6. 2007
    ..To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program...
  73. ncbi request reprint Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience
    John J Mitchell
    Department of Genetics, Montreal Children s Hospital, Montreal, Canada H3H 1P3
    Mol Genet Metab 86:S81-5. 2005
    ..This study confirms that a significant number of patients with mild to moderate PKU will respond to a BH4 load. Furthermore, it confirms that the seven-day phenylalanine test is more sensitive in detecting BH4 responsive patients...
  74. doi request reprint More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate
    Bridget Wilcken
    N Engl J Med 358:647; author reply 647. 2008
  75. ncbi request reprint History of the International Society for Neonatal Screening
    Bradford Therrell
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    Southeast Asian J Trop Med Public Health 34:3-5. 2003
  76. ncbi request reprint Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene
    Steven F Dobrowolski
    Idaho Technology, Salt Lake City, Utah, USA
    Hum Mutat 25:306-13. 2005
    ..These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration...
  77. ncbi request reprint Screening of newborns for metabolic disorders with mass spectrometry
    Bridget Wilcken
    JAMA 291:1444; author reply 1444-5. 2004
  78. pmc Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Petr Vyletal
    Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 28:255-64. 2007
    ..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates...