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1

First prenatal diagnosis of the carnitine transporter defect

Christodoulou, John, Teo, Siak Hong, Hammond, Judith, Sim, Keow Giak, Hsu, Betty Y.L., Stanley, Charles A., Watson, Brian, Lau, K.C., Wilcken, Bridget

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 406 KB

english, 1996

2

Ethical issues in newborn screening and the impact of new technologies

Bridget Wilcken

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 166 KB

english, 2003

3

Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy

Padraic J. Grattan-Smith, Ron A. Wevers, Gerry C. Steenbergen-Spanjers, Victor S.C. Fung, John Earl, Bridget Wilcken

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

4

‘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, Federica Deodato, Wulf Röschinger, William Rhead, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 395 KB

english, 2006

5

Expanded newborn screening: reducing harm, assessing benefit

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

6

Expanded newborn screening in New South Wales: missed cases

Estrella, Jane, Wilcken, Bridget, Carpenter, Kevin, Bhattacharya, Kaustuv, Tchan, Michel, Wiley, Veronica

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 156 KB

english, 2014

7

Newborn screening

Wilcken, Bridget, Wiley, Veronica

Journal:

Year:

2008

Language:

english

File:

PDF, 475 KB

english, 2008

8

Leukoencephalopathies Associated with Disorders of Cobalamin and Folate Metabolism

Wilcken, Bridget

Journal:

Seminars in Neurology

Year:

2012

Language:

english

File:

PDF, 163 KB

english, 2012

9

Controversies in newborn screening

Wilcken, Bridget

Journal:

Year:

2017

Language:

english

File:

PDF, 38 KB

english, 2017

10

Does every baby get a newborn screening test?

Wilcken, Bridget M

Journal:

The Medical Journal of Australia

Year:

2003

File:

PDF, 48 KB

2003

11

Neonatal screening for cystic fibrosis: It is time

Bridget Wilcken

Journal:

Pediatric Pulmonology

Year:

1998

Language:

english

File:

PDF, 20 KB

english, 1998

12

Sweat testing following newborn screening for cystic fibrosis

John Massie, Kevin Gaskin, Peter Van Asperen, Bridget Wilcken

Journal:

Pediatric Pulmonology

Year:

2000

Language:

english

File:

PDF, 162 KB

english, 2000

13

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

Mette Gaustadnes, Bridget Wilcken, Jana Oliveriusova, Jim McGill, Janice Fletcher, Jan P. Kraus, David E. Wilcken

Journal:

Year:

2002

Language:

english

File:

PDF, 162 KB

english, 2002

14

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

T.B. Nga Ly, Verena Peters, K. Michael Gibson, Michael Liesert, Wolfgang Buckel, Bridget Wilcken, Kevin Carpenter, Regina Ensenauer, Georg F. Hoffmann, Matthias Mack, Johannes Zschocke

Journal:

Year:

2003

Language:

english

File:

PDF, 166 KB

english, 2003

15

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

Steven F. Dobrowolski, Jason T. McKinney, Cristina Amat di San Filippo, Keow Giak Sim, Bridget Wilcken, Nicola Longo

Journal:

Year:

2005

Language:

english

File:

PDF, 433 KB

english, 2005

16

Hawkinsinuria — identification of quinolacetic acid and pyroglutamic acid during an acidotic phase

Charles H. Hocart, Berthold Halpern, Larry A. Hick, Choon O. Wong, Judith W. Hammond, Bridget Wilcken

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1983

Language:

english

File:

PDF, 439 KB

english, 1983

17

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

Simon T. Cliffe, Melanie Wong, Peter J. Taylor, Ezia Ruga, Bridget Wilcken, Robert Lindeman, Michael F. Buckley, Tony Roscioli

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 309 KB

english, 2007

18

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

Michael C. Falk, John F. Knight, L. Paul Roy, Bridget Wilcken, David N. Schell, Anthony J. O'Connell, Jonathan Gillis

Journal:

Pediatric Nephrology

Year:

1994

Language:

english

File:

PDF, 435 KB

english, 1994

19

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

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

20

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

David E. L. Wilcken, Jun Wang, Ah Siew Sim, Kathryn Green, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 300 KB

english, 2006

21

Newborn screening for cystic fibrosis: Techniques and strategies

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 243 KB

english, 2007

22

Fatty acid oxidation disorders: outcome and long-term prognosis

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

23

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

24

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

Sunita Bijarnia, Bridget Wilcken, Veronica C. Wiley

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 170 KB

english, 2011

25

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

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

26

Clinical practice and the development of evidence

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

27

Letters to the Editor

Professor Bridget Wilcken

Journal:

Journal of Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

28

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

Helena K Gleeson, Veronica Wiley, Bridget Wilcken, Elizabeth Elliott, Christopher Cowell, Michael Thonsett, Geoffrey Byrne, Geoffrey Ambler

Journal:

Journal of Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 118 KB

english, 2008

29

Ethical issues in genetics

Bridget Wilcken

Journal:

Journal of Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 102 KB

english, 2011

30

B Vitamins and Homocysteine in Cardiovascular Disease and Aging

DAVID E. L. WILCKEN, BRIDGET WILCKEN

Journal:

Annals of the New York Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 119 KB

english, 1998

31

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)

Urwin, Ruth E, Bennetts, Bruce H, Wilcken, Bridget, Lampropoulos, Basiliki, Beumont, Peter J V, Russell, Janice D, Tanner, Sue L, Nunn, Kenneth P

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

32

Homocystinuria — The Effects of Betaine in the Treatment of Patients Not Responsive to Pyridoxine

Wilcken, David E. L., Wilcken, Bridget, Dudman, Nicholas P. B., Tyrrell, Pauline A.

Journal:

Boston Medical and Surgical Journal

Year:

1983

Language:

english

File:

PDF, 1.01 MB

english, 1983

33

Healthcare Use and Costs of Medium-chain Acyl-Coa Dehydrogenase Deficiency in Australia: Screening Versus No Screening

Marion Haas, Meredyth Chaplin, Pamela Joy, Veronica Wiley, Carly Black, Bridget Wilcken

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

34

Cystic Fibrosis: Refining the Approach to Newborn Screening

Bridget Wilcken

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

35

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

Joyce Vidler, Bridget Wilcken

Journal:

Clinica Chimica Acta

Year:

1978

Language:

english

File:

PDF, 454 KB

english, 1978

36

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

Suzan Wopereis, Umi M. Abd Hamid, Alison Critchley, Louise Royle, Raymond A. Dwek, Éva Morava, Jules G. Leroy, Bridget Wilcken, Aart J. Lagerwerf, Karin M.L.C. Huijben, Dirk J. Lefeber, Pauline M. Rud

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 485 KB

english, 2006

37

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

Richard Norman, Marion Haas, Bridget Wilcken

Journal:

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

38

Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course

Mary Anne Chiong, Peter Procopis, Kevin Carpenter, Bridget Wilcken

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 319 KB

english, 2007

39

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

Karen McKay, Bridget Wilcken

Journal:

Paediatric Respiratory Reviews

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

40

Problems in the management of urea cycle disorders

Bridget Wilcken

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

41

Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations

Leigh Waddell, Veronica Wiley, Kevin Carpenter, Bruce Bennetts, Lyn Angel, Brage S. Andresen, Bridget Wilcken

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 256 KB

english, 2006

42

Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience

John J. Mitchell, Bridget Wilcken, Ian Alexander, Carolyn Ellaway, Helen O’Grady, Veronica Wiley, John Earl, John Christodoulou

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

43

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

Suzanne Schindeler, Suparna Ghosh-Jerath, Susan Thompson, Antonella Rocca, Pamela Joy, Allan Kemp, Caroline Rae, Kathryn Green, Bridget Wilcken, John Christodoulou

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 216 KB

english, 2007

44

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

Keow G. Sim, Judith Hammond, Bridget Wilcken

Journal:

Clinica Chimica Acta

Year:

2002

Language:

english

File:

PDF, 388 KB

english, 2002

45

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

Bridget Wilcken, Veronica Wiley, Gina Sherry, Ursula Bayliss

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 680 KB

english, 1995

46

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

John Christodoulou, Julie Hoare, Judith Hammond, Wai Ching Ip, Bridget Wilcken

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 352 KB

english, 1995

47

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

Bridget Wilcken, Kevin Carpenter, Veronica Wiley

Journal:

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

48

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

Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh

Journal:

Year:

2007

Language:

english

File:

PDF, 109 KB

english, 2007

49

More evidence to favour newborn screening for cystic fibrosis

Bridget Wilcken, Kevin Gaskin

Journal:

Year:

2007

Language:

english

File:

PDF, 40 KB

english, 2007

50

Neonatal screening for lysosomal storage disorders

Janice Fletcher, Bridget Wilcken

Journal:

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012