B. Wilcken

发表

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

B. Wilcken, V. Wiley, J. Hammond, 2003, The New England journal of medicine.

Urinary metabolic profiling for detection of metabolic disorders: assessment report

J. Atherton, B. Wilcken, D. Perry-Keene, 2009 .

Assessment of pancreatic function in screened infants with cystic fibrosis

B. Wilcken, K. Gaskin, D. Waters, 1991, Pediatric pulmonology. Supplement.

Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program.

B. Wilcken, K. Gaskin, D. Waters, 1990, The New England journal of medicine.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

Mini-Symposium: Newborn screening for inborn errors of metabolism—Clinical effectiveness

B. Wilcken, 2006, Journal of Inherited Metabolic Disease.

Diagnosis and management of glutaric aciduria type I – revised recommendations

M. Durán, C. Greenberg, E. Christensen, 2011, Journal of Inherited Metabolic Disease.

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

M. Gillingham, B. Wilcken, J. Bastin, 2010, Journal of Inherited Metabolic Disease.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

M. Durán, R. Surtees, C. Greenberg, 2007, Journal of Inherited Metabolic Disease.

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

D. Wilcken, B. Wilcken, N. Dudman, 1983, The New England journal of medicine.

Expanded newborn screening in New South Wales: missed cases

K. Bhattacharya, B. Wilcken, V. Wiley, 2014, Journal of Inherited Metabolic Disease.

Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study.

J. Bentley, C. Roberts, N. Nassar, 2016, The lancet. Diabetes & endocrinology.

Reviews and Notes: Genetics: The Metabolic and Molecular Bases of Inherited Disease

B. Wilcken, 1995, Annals of Internal Medicine.

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

J. Christodoulou, C. Ellaway, K. Bhattacharya, 2013, JIMD Reports.

Record-linkage is a feasible method for investigating the relationship between perinatal factors, maternal and neonatal thyroid stimulating hormone

C. Roberts, N. Nassar, B. Wilcken, 2015 .

Using record linkage to investigate perinatal factors and neonatal thyroid‐stimulating hormone

C. Roberts, N. Nassar, B. Wilcken, 2015, Journal of paediatrics and child health.

The implication of phenylketonuria on oral health.

J. Christodoulou, B. Wilcken, H. Awang, 1999, Pediatric Dentistry.

The pathogenesis of coronary artery disease. A possible role for methionine metabolism.

D. Wilcken, B. Wilcken, 1976, The Journal of clinical investigation.

International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions.

R. Norman, M. Haas, B. Wilcken, 2009, Health policy.

HEALTHCARE USE AND COSTS OF MCADD IN AUSTRALIA : SCREENING VERSUS NO SCREENING

P. Joy, M. Haas, B. Wilcken, 2009 .

Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: the negative case.

B. Wilcken, 2008, Annals of the Academy of Medicine, Singapore.

Newborn screening for inherited metabolic disease

B. Wilcken, 2007 .

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

John J. Mitchell, J. Christodoulou, C. Ellaway, 2005, Molecular genetics and metabolism.

Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels.

P. V. van Asperen, B. Wilcken, V. Wiley, 2000, The Journal of pediatrics.

The consequences of extended newborn screening programmes: Do we know who needs treatment?

B. Wilcken, 2008, Journal of Inherited Metabolic Disease.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.

J. Christodoulou, P. Joy, C. Rae, 2007, Molecular genetics and metabolism.

Expanded newborn screening: reducing harm, assessing benefit

B. Wilcken, 2010, Journal of Inherited Metabolic Disease.

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.

J. Christodoulou, B. Wilcken, J. Hammond, 2002, Molecular genetics and metabolism.

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

D. Zafeiriou, B. Weschke, A. Mégarbané, 2010, Brain : a journal of neurology.

Evaluating outcomes of newborn screening programs.

B. Wilcken, 2003, The Southeast Asian journal of tropical medicine and public health.

Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.

G. Boers, H. Levy, A. Tangerman, 2000, Metabolism: clinical and experimental.

Newborn Screening for Inborn Errors of Metabolism

P. Rinaldo, D. Matern, B. Wilcken, 2012 .

Newborn screening: how are we travelling, and where should we be going?

B. Wilcken, 2011, Journal of Inherited Metabolic Disease.

Glutaric aciduria type I: outcome following detection by newborn screening

J. Christodoulou, C. Ellaway, B. Wilcken, 2008, Journal of Inherited Metabolic Disease.

The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening.

E. Wiltshire, Callum Wilson, B. Wilcken, 2007, The New Zealand medical journal.

Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening.

B. Wilcken, V. Wiley, K. Carpenter, 2007, Molecular genetics and metabolism.

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

J. Fletcher, A. Boneh, P. Joy, 2007, The Lancet.

‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry

C. Dionisi-Vici, F. Deodato, B. Wilcken, 2006, Journal of Inherited Metabolic Disease.

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

K. Bhattacharya, B. Wilcken, V. Wiley, 2006, Journal of Inherited Metabolic Disease.

Validation of dye‐binding/high‐resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

N. Longo, S. Dobrowolski, B. Wilcken, 2005, Human mutation.

Problems in the management of urea cycle disorders.

B. Wilcken, 2004, Molecular genetics and metabolism.

Screening of newborns for metabolic disorders with mass spectrometry.

B. Wilcken, 2004, JAMA.

Does every baby get a newborn screening test?

B. Wilcken, 2003, The Medical journal of Australia.

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.

B. Wilcken, V. Wiley, K. Carpenter, 2001, The Journal of pediatrics.

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.

B. Wilcken, J. Hammond, K. Carpenter, 1992, The Journal of pediatrics.

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

B. Wilcken, V. Wiley, K. Carpenter, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk.

D. Wilcken, X. L. Wang, B. Wilcken, 2000, Arteriosclerosis, thrombosis, and vascular biology.

Vascular Outcome in Patients With Homocystinuria due to Cystathionine &bgr;-Synthase Deficiency Treated Chronically: A Multicenter Observational Study

G. Boers, D. Wilcken, Philip J. Lee, 2001, Arteriosclerosis, thrombosis, and vascular biology.

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

M. Silink, B. Wilcken, J. Hammond, 1994, Archives of disease in childhood.

Natural history of Hartnup disease.

B. Wilcken, J. Yu, D. Brown, 1977, Archives of disease in childhood.

replacement therapies can cost hundreds of thousands of pounds per life-year gained.

B. Wilcken, 2015 .

Mutations in the AUH gene cause 3‐methylglutaconic aciduria type I

K. Gibson, M. Mack, J. Zschocke, 2003, Human mutation.

The Natural History of Homocystinura Due to Cystathionine jP-Synthase Deficiency

K. Pettigrew, G. Boers, G. Andria, 2006 .

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Katherine R. Smith, M. Bahlo, Luke C. Gandolfo, 2014, American journal of human genetics.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

S. Packman, L. Bolund, P. Bross, 1997, Human molecular genetics.

PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS

K. Davies, P. Pearson, P. Briand, 1985, The Lancet.

Deficiency Treated Chronically : A Multicenter Observational Study-Synthase β Vascular Outcome in Patients With Homocystinuria due to Cystathionine

G. Boers, D. Wilcken, J. Walter, 2001 .

Neonatal screening for lysosomal storage disorders

J. Fletcher, B. Wilcken, 2012, The Lancet.

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate

J. Kopecká, B. Wilcken, V. Kožich, 2015, Journal of Inherited Metabolic Disease.

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

J. Goldblatt, N. Poplawski, B. Wilcken, 2001, The European respiratory journal.

The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome

G. Boers, B. Wilcken, E. Naughten, 2000 .

Screening for spinal muscular atrophy

M. Farrar, B. Wilcken, H. Sampaio, 2018, The Medical journal of Australia.

Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

B. Wilcken, 2018, International journal of neonatal screening.

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

J. Boyle, M. Field, B. Wilcken, 2018, International journal of neonatal screening.

Fifty years of newborn screening

B. Wilcken, V. Wiley, 2015, Journal of paediatrics and child health.

Newborn Screening: Gaps in the Evidence

B. Wilcken, 2013, Science.

Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program

B. Wilcken, K. Gaskin, D. Waters, 1990 .

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies.

B. Wilcken, A. Smith, D. Brown, 1980, The Journal of pediatrics.

Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

B. Wilcken, N. N. Martinez, M. Lipke, 2019, JIMD reports.

More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate.

B. Wilcken, 2008, The New England journal of medicine.

Two‐year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia

E. Elliott, G. Ambler, B. Wilcken, 2008, Journal of paediatrics and child health.

Leukoencephalopathies Associated with Disorders of Cobalamin and Folate Metabolism

B. Wilcken, 2012, Seminars in Neurology.

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

D. Cooper, M. Krawczak, H. Blom, 2006, Human mutation.

REDUCED MORBIDITY IN PATIENTS WITH CYSTIC FIBROSIS DETECTED BY NEONATAL SCREENING

B. Wilcken, Gwen Chalmers, 1985, The Lancet.

AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice.

P. Kuchel, I. Alexander, B. Wilcken, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spfash Mice.

P. Kuchel, I. Alexander, B. Wilcken, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

Sapropterin Review of its Use in the Treatment of Primary Hyperphenylalaninaemia

E. Czeizel, V. Leuzzi, B. Wilcken, 2009 .

Homocystinuria in New South Wales.

G. Turner, B. Wilcken, 1978, Archives of disease in childhood.

Homocystinuria. Reduced folate levels during pyridoxine treatment.

B. Wilcken, B. Turner, 1973, Archives of disease in childhood.

Reproductive decisions after neonatal screening identifies cystic fibrosis

B. Wilcken, B. Burgess, G. Turner, 2000, Archives of disease in childhood. Fetal and neonatal edition.

Diagnostic delay in cystic fibrosis: lessons from newborn screening.

C. Mellis, B. Wilcken, S. Towns, 1983, Archives of disease in childhood.

Homocysteine and its disulfide derivatives: a suggested consensus terminology.

I. Rosenberg, H. Blom, D. Wilcken, 2000, Arteriosclerosis, thrombosis, and vascular biology.

Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency.

G. Besley, C. Dezateux, B. Wilcken, 2010, Clinical chemistry.

Improving child health--newborn screening for all?

B. Wilcken, 2008, Annals of the Academy of Medicine, Singapore.

Homozygous cystinuria in New South Wales

B. Wilcken, Arabella Smith, 1984, The Medical journal of Australia.

PROPOSED ASSIGNMENT OF LOCI FOR X-LINKED ADRENAL HYPOPLASIA AND GLYCEROL KINASE GENES

R. Brookwell, B. Wilcken, S. Purvis-Smith, 1985, The Lancet.

Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

B. Wilcken, 2001, Journal of Inherited Metabolic Disease.

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry

B. Wilcken, K. Carpenter, 1999, Journal of Inherited Metabolic Disease.

Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies.

B. Wilcken, V. Wiley, G. Sherry, 1995, The Journal of pediatrics.

Screening for disease in the newborn: the evidence base for blood-spot screening.

B. Wilcken, Bridget Wilcken, 2012, Pathology.

Oral Tyrosine Supplementation Facilitates Conditions for the Preferential Transport of Tyrosine Across the Blood-Brain Barrier in Anorexia Nervosa: a Case Study Series

D. Sibbritt, K. Nunn, B. Wilcken, 2021 .

Prevalence of maternal HIV infection based on anonymous testing of neonates, Sydney 1989

D. Cooper, A. Imrie, M. McLaws, 1990, The Medical journal of Australia.

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples

J. Christodoulou, B. Wilcken, V. Wiley, 2011, Annals of clinical biochemistry.

Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome

P. Joy, M. Haas, B. Wilcken, 2008, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Sweat testing following newborn screening for cystic fibrosis

Bridget Wilcken, P. Asperen, J. Massie, 2000, Pediatric pulmonology.

Newborn screening methods for cystic fibrosis.

B. Wilcken, V. Wiley, 2003, Paediatric respiratory reviews.

Delayed diagnosis of cystic fibrosis in children with a rare genotype (ΔF508/R117H)

Meredith Wilson, R. Henry, D. Fitzgerald, 1995 .

Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism

J. Knight, B. Wilcken, J. Gillis, 1994, Pediatric Nephrology.

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

P. Procopis, B. Wilcken, K. Carpenter, 2007, Pediatric neurology.

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

R. Dwek, R. Wevers, P. Rudd, 2006, Biochimica et biophysica acta.

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

J. Leonard, B. Wilcken, J. Hammond, 1993, The Lancet.

Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

P. Clayton, S. Arbuckle, Harry Singh, 2014, JIMD reports.

Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders

Bridget Wilcken, B. Wilcken, J. Hammond, 2002 .

Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring.

B. Wilcken, R. Batey, M. Schoeman, 1991, Gastroenterology.

Dicarboxylic aciduria: the response to fasting.

M. Silink, H. Griffiths, B. Wilcken, 1979, Clinica chimica acta; international journal of clinical chemistry.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Antenatal diagnosis of glutaric acidemia.

B. Wilcken, S. Goodman, G. Wise, 1980, American journal of human genetics.

The neurological syndrome of infantile cobalamin deficiency: Developmental regression and involuntary movements

P. Grattan-Smith, P. Procopis, B. Wilcken, 1997, Movement disorders : official journal of the Movement Disorder Society.

HEARING LOSS IN BIOTINIDASE DEFICIENCY

B. Wolf, G. S. Heard, B. Wilcken, 1983, The Lancet.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Ethical issues in newborn screening and the impact of new technologies

B. Wilcken, 2003, European Journal of Pediatrics.

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

B. Wilcken, V. Wiley, K. Carpenter, 2001, Archives of disease in childhood. Fetal and neonatal edition.

Book Review The Metabolic and Molecular Bases of Inherited Disease Eighth edition. Edited by Charles R. Scriver, with six others. 5568 pp. in four volumes, illustrated. New York, McGraw-Hill, 2001. $550. 0-07-913035-6

B. Wilcken, 2001 .

Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns

R. Cotton, B. Wilcken, M. O'Halloran, 1991, Journal of Inherited Metabolic Disease.

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

K. Pettigrew, G. Boers, R. Pyeritz, 1985, American journal of human genetics.

Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy

V. Fung, R. Wevers, G. Steenbergen-Spanjers, 2002, Movement disorders : official journal of the Movement Disorder Society.

Sialuria: a follow-up report

B. Wilcken, N. Don, 1991, Journal of Inherited Metabolic Disease.

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

S. Balasubramaniam, G. Peters, B. Wilcken, 2010, Molecular genetics and metabolism.

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)

K. Nunn, B. Wilcken, J. Russell, 2003, European Journal of Human Genetics.

Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants.

B. Wilcken, A. Brown, D. Brown, 1983, The Journal of pediatrics.

Family studies in ornithine transcarbamylase deficiency.

W. O'Sullivan, B. Wilcken, J. Hammond, 1988, Archives of disease in childhood.

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

S. Vollset, E. Bermejo, S. Bianca, 2003, Journal of medical genetics.

Clinical outcomes of newborn screening for cystic fibrosis

L. Irwig, J. Simpson, P. V. van Asperen, 1999, Archives of disease in childhood. Fetal and neonatal edition.

European best practice guidelines for cystic fibrosis neonatal screening.

O. Sommerburg, M. Macek, C. Férec, 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Newborn screening.

Veronica Wiley, Bridget Wilcken, B. Wilcken, 2008, Pathology.

Maternal attitudes to newborn screening for fragile X syndrome

J. Boyle, M. Field, J. Hansen, 2013, American journal of medical genetics. Part A.

Postpartum maternal iodine status and the relationship to neonatal thyroid function.

A. McElduff, B. Wilcken, V. Wiley, 2003, Thyroid : official journal of the American Thyroid Association.

Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region

S. Clarke, K. Nunn, B. Wilcken, 2002, Molecular Psychiatry.

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.

B. Wilcken, 2008, Journal of Paediatrics and Child Health.

First prenatal diagnosis of the carnitine transporter defect.

C. Stanley, J. Christodoulou, B. Y. Hsu, 1996, American journal of medical genetics.

Newborn screening for cystic fibrosis: Techniques and strategies

B. Wilcken, 2007 .

B Vitamins and Homocysteine in Cardiovascular Disease and Aging

B. Wilcken, D. Wilcken, 1998, Annals of the New York Academy of Sciences.

Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery.

P. McElduff, A. McElduff, B. Wilcken, 2005, The Journal of clinical endocrinology and metabolism.

Iodine status in pregnant women and their newborns: are our babies at risk of iodine deficiency?

C. Eastman, S. Boyages, B. Wilcken, 2006, The Medical journal of Australia.

Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test

B. Wilcken, V. Wiley, S. Bijarnia, 2011, Journal of Inherited Metabolic Disease.

Neonatal thyroid‐stimulating hormone concentrations in northern Sydney: further indications of mild iodine deficiency?

P. McElduff, A. McElduff, B. Wilcken, 2002, The Medical journal of Australia.

Association of elevated neonatal thyroid-stimulating hormone levels with school performance and stimulant prescription for attention deficit hyperactivity disorder in childhood

Andrew J. Martin, N. Nassar, B. Wilcken, 2020, European Journal of Pediatrics.

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

B. Wilcken, V. Wiley, K. Carpenter, 2002, The Lancet.

Disorders of Sulfur Amino Acid Metabolism

B. Wilcken, 2006 .

Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009.

E. Wiltshire, Callum Wilson, B. Wilcken, 2012, The New Zealand medical journal.

Newborn screening for metabolic disorders in Australia and New Zealand: results for 1983: HumanGenetics Society of Australasia Newborn Screening Committee

B. Wilcken, E. Robertson, I. Lyon, 1985, The Medical journal of Australia.

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

M. Bamshad, C. Y. Ooi, J. Duley, 2016, Molecular genetics and metabolism.

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

K. Bhattacharya, B. Wilcken, P. Shaw, 2021, JIMD reports.

Acid soaps in the fish odour syndrome

B. Wilcken, 1993 .

The first prenatal diagnosis for veno‐occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110

T. Roscioli, R. Lindeman, B. Wilcken, 2007, Prenatal diagnosis.

The association of protein-losing enteropathy with cobalamin C defect

J. Christodoulou, C. Ellaway, B. Wilcken, 1998, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

M. Grompe, R. Schutgens, C. Jakobs, 2001, Molecular genetics and metabolism.

Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.

J. Christodoulou, B. Wilcken, V. Wiley, 2011, JIMD reports.

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

B. Wilcken, V. Wiley, K. Carpenter, 2001, Journal of Inherited Metabolic Disease.

Fatty acid oxidation disorders: outcome and long-term prognosis

Bridget Wilcken, B. Wilcken, 2010, Journal of Inherited Metabolic Disease.

INCIDENCE OF HOMOCYSTINURIA

B. Wilcken, 1975, The Lancet.

Homocystinuria

B. Wilcken, B. Turner, 1973 .

DETECTION OF ABNORMAL SULPHUR‐CONTAINING AMINO ACID EXCRETION IN A MASS URINE‐SCREENING PROGRAMME

B. Wilcken, B. Turner, D. Brown, 1972, The Medical journal of Australia.

The molecular basis of cystathionine β‐synthase deficiency in Australian patients: Genotype–phenotype correlations and response to treatment

J. Fletcher, M. Gaustadnes, J. Kraus, 2002, Human mutation.

Screening for metabolic diseases in New South Wales.

B. Wilcken, T. Gaha, A. Smith, 1973, Medical Journal of Australia.

The natural history of vascular disease in homocystinuria and the effects of treatment

D. Wilcken, B. Wilcken, D. Wilcken, 1997, Journal of Inherited Metabolic Disease.

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Janice Fletcher, Pamela Joy, Kevin Carpenter, 2009, Pediatrics.

Economic Evaluation of Tandem Mass Spectrometry Newborn Screening in Australia

R. Norman, P. Joy, M. Haas, 2009, Pediatrics.

GENETIC SCREENING OF THE NEWBORN IN AUSTRALIA

D. Pitt, B. Wilcken, J. Raby, 1977, Australian paediatric journal.

Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.

G. Boers, D. Wilcken, B. Wilcken, 2000, Seminars in thrombosis and hemostasis.

Prevalence of unsuspected urinary bacterial contamination: effects of screening tests for detection of inborn errors of metabolism.

B. Wilcken, J. Vidler, 1978, Clinica chimica acta; international journal of clinical chemistry.

Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5

J. Rasko, B. Wilcken, S. Potter, 2002, Journal of Inherited Metabolic Disease.

Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy.

C. Hocart, T. Bohane, B. Wilcken, 1981, The New England journal of medicine.

Investigation of Epistasis Between the Serotonin Transporter and Norepinephrine Transporter Genes in Anorexia Nervosa

K. Nunn, B. Wilcken, P. Beumont, 2003, Neuropsychopharmacology.

Clumsiness, confusion, coma, and valproate

B. Wilcken, B. Bennetts, R. Tuck, 1999, The Lancet.

The Long-Term Outcome in Homocystinuria

D. Wilcken, B. Wilcken, 1997 .

Reduced glutathione, γ-glutamylcysteine, cysteine and γ-glutamylglutamine in γ-glutamyltransferase deficiency

B. Wilcken, J. Hammond, M. Potter, 1999, Journal of Inherited Metabolic Disease.

Siblings with γ-glutamyltransferase deficiency

B. Wilcken, J. Hammond, R. Truscott, 1995, Journal of Inherited Metabolic Disease.

Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening

C. Castellani, A. Tamanini, J. Massie, 2007, Archives of Disease in Childhood.

Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

C. Y. Ooi, B. Wilcken, V. Wiley, 2017, The Journal of pediatrics.

Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for.

B. Wilcken, K. McKay, 2008, Paediatric Respiratory Reviews.

Newborn screening for cystic fibrosis: Its evolution and a review of the current situation

B. Wilcken, 1993 .

Neonatal screening for cystic fibrosis: present and future

B. Wilcken, G. Travert, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

L. Waddell, B. Andresen, B. Wilcken, 2006, Molecular genetics and metabolism.

3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing

A. Boneh, J. Pitt, B. Wilcken, 2002, Journal of Inherited Metabolic Disease.

Suspected defect in fatty acid oxidation.

M. Silink, H. Griffiths, B. Wilcken, 1978, New England Journal of Medicine.

More evidence to favour newborn screening for cystic fibrosis

B. Wilcken, K. Gaskin, 2007, The Lancet.

Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts

B. Wilcken, J. Hammond, W. Ip, 1996, Journal of Inherited Metabolic Disease.

Hyperammonemic encephalopathy complicating bariatric surgery: a case study and review of the literature.

B. Wilcken, M. Tchan, M. Talbot, 2014, Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery.

Pathogenesis of coronary artery disease

Bridget Wilcken, M. Friedman, B. Wilcken, 1969 .

Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example

L. Williams, D. Sibbritt, K. Nunn, 2021, Journal of eating disorders.

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.

J. Christodoulou, B. Wilcken, J. Hammond, 2002, Metabolism: clinical and experimental.

Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.

Bridget Wilcken, B. Wilcken, J. Hammond, 2002, Clinica chimica acta; international journal of clinical chemistry.

3-Methylglutaconic aciduria type I redefined

J. Cruysberg, A. Graham, U. Engelke, 2010, Neurology.

Fatal late‐onset ornithine transcarbamylase deficiency after coronary artery bypass surgery

S. Strasser, B. Wilcken, B. Bennetts, 2007, The Medical journal of Australia.

3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.

B. Wilcken, J. Hammond, 1984, Journal of inherited metabolic disease.

Clinical approach to inborn errors of metabolism presenting in the newborn period

J. Christodoulou, C. Ellaway, B. Wilcken, 2002, Journal of paediatrics and child health.

gamma-Glutamylglutamine identified in plasma and cerebrospinal fluid from hyperammonaemic patients.

B. Wilcken, J. Hammond, R. Truscott, 1990, Clinica chimica acta; international journal of clinical chemistry.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

J. Okun, G. Hoffmann, P. Burgard, 2016, JIMD reports.

l-2-Hydroxyglutaric aciduria: Three Australian cases

J. Pitt, B. Wilcken, N. Buchanan, 1993, Journal of Inherited Metabolic Disease.

Biochemical Methods in Medical Genetics

B. Wilcken, 1978 .

Methylenetetrahydrofolate reductase (MTHFR) mutation, homocyst(e)ine, and coronary artery disease.

D. Wilcken, X. L. Wang, B. Wilcken, 1997, Circulation.

Dihydropyrimidine dehydrogenase deficiency — A further case

B. Wilcken, J. Hammond, G. Wise, 1985, Journal of Inherited Metabolic Disease.

n of 1 trial for an ornithine transcarbamylase deficiency carrier.

A. Hackett, B. Wilcken, J. Gillard, 2008, Molecular genetics and metabolism.

Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function

D. Wilcken, B. Wilcken, A. S. Sim, 2006, Journal of Inherited Metabolic Disease.

Disorders of the carnitine cycle and detection by newborn screening.

B. Wilcken, 2008, Annals of the Academy of Medicine, Singapore.

An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches.

B. Wilcken, 2003, The Southeast Asian journal of tropical medicine and public health.

DIAGNOSIS OF CYSTIC FIBROSIS

B. Wilcken, M. O'Halloran, John M Brown, 1987, The Lancet.

Cystic fibrosis: refining the approach to newborn screening.

B. Wilcken, 2009, The Journal of pediatrics.

Perimortem laboratory investigation of genetic metabolic disorders.

Bridget Wilcken, J. Christodoulou, B. Wilcken, 2004, Seminars in neonatology : SN.

Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.

J. Christodoulou, B. Wilcken, J. Hammond, 1995, The Journal of pediatrics.

A defect in cobalamin (Vitamin B12) metabolism associated with homocystinuria and methylmalonic acldurla

M. Silink, B. Wilcken, J. Hammond, 1983 .

FAILURE TO IDENTIFY HETEROZYGOTES FOR GALACTOSAEMIA IN WOMEN WITH PREMATURE OVARIAN FAILURE

B. Wilcken, R. Shearman, I. Fraser, 1987, The Lancet.

Recent advances in newborn screening

B. Wilcken, B. Wilcken, 2007, Journal of Inherited Metabolic Disease.

Neonatal screening for cystic fibrosis

G. Turner, B. Wilcken, T. Dudding, 2000, The Lancet.

Ethical issues in genetics

B. Wilcken, 2011, Journal of paediatrics and child health.

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency

B. Wilcken, J. Hammond, K. Carpenter, 1997, Journal of Inherited Metabolic Disease.

The management of pregnancy in maple syrup urine disease: experience with two patients.

B. Wilcken, R. Cutler, G. Wilcox, 2013, JIMD reports.

Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.

P. Joy, M. Haas, B. Wilcken, 2007, The Journal of pediatrics.

Neonatal screening for cystic fibrosis: It is time

B. Wilcken, 1998, Pediatric pulmonology.

An evaluation of screening for cystic fibrosis.

B. Wilcken, 1987, Progress in clinical and biological research.

Cystic fibrosis screening and community genetics.

G. Turner, B. Wilcken, H. Griffiths, 1991, Journal of Medical Genetics.

Increased iodine deficiency in Victoria, Australia: analysis of neonatal thyroid‐stimulating hormone data, 2001 to 2006

B. Wilcken, V. Wiley, 2011, The Medical journal of Australia.

Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.

S. Wysocki, R. Hähnel, B. Wilcken, 1979, Clinica chimica acta; international journal of clinical chemistry.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

John J. Mitchell, J. Christodoulou, C. Ellaway, 2005, Molecular genetics and metabolism.

International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions.

R. Norman, M. Haas, B. Wilcken, 2009, Health policy.

Newborn screening for congenital adrenal hyperplasia: testing to commence in New South Wales.

B. Wilcken, V. Wiley, 1996, Journal of paediatrics and child health.

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

B. Wilcken, J. Hammond, K. Carpenter, 1993, Archives of disease in childhood.

3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

B. Wilcken, 2016, Journal of Inherited Metabolic Disease.