WILCKEN, BRIDGET: search on Z-Library

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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

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

4

Does every baby get a newborn screening test?

Wilcken, Bridget M

Journal:

The Medical Journal of Australia

Year:

2003

File:

PDF, 48 KB

2003

5

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

6

Controversies in newborn screening

Wilcken, Bridget

Journal:

Year:

2017

Language:

english

File:

PDF, 38 KB

english, 2017

7

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

8

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

9

‘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

10

Newborn screening

Wilcken, Bridget, Wiley, Veronica

Journal:

Year:

2008

Language:

english

File:

PDF, 475 KB

english, 2008

11

Ethical issues in genetics

Bridget Wilcken

Journal:

Journal of Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 102 KB

english, 2011

12

Urine screening for aminoacidopathies: Is it beneficial?: Results of a long-term follow-up of cases detected by screening one million babies

Bridget Wilcken, Arabella Smith, D.A. Brown

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 523 KB

english, 1980

13

DIAGNOSIS OF CYSTIC FIBROSIS

Brown, John, Wilcken, Bridget, O'Halloran, Mary

Journal:

Year:

1987

Language:

english

File:

PDF, 163 KB

english, 1987

14

The ward round

Wilcken, Bridget

Journal:

Journal of Paediatrics and Child Health

Year:

2014

Language:

english

File:

PDF, 54 KB

english, 2014

15

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

Lain, Samantha J, Roberts, Christine L, Wilcken, Bridget, Wiley, Veronica, Jack, Michelle M, Nassar, Natasha

Journal:

Journal of Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 256 KB

english, 2015

16

Eliminating Some Possible Errors in Phenylketonuria Screening

Wilcken, Bridget, Brown, A.R.D., Liu, Anne, Jones, Kathie

Journal:

American Journal of Clinical Pathology

Year:

1989

Language:

english

File:

PDF, 110 KB

english, 1989

17

Letters to the Editor

Professor Bridget Wilcken

Journal:

Journal of Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

18

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

Wilcken, Bridget M, Wiley, Veronica C

Journal:

The Medical Journal of Australia

Year:

2011

File:

PDF, 63 KB

2011

19

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

20

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

21

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

22

Congenital hypothyroidism: check the siblings

Emder, Phillip J, Wilcken, Bridget M

Journal:

The Medical Journal of Australia

Year:

1995

File:

PDF, 143 KB

1995

23

The case for newborn screening for congenital adrenal hyperplasia in Australia

Warne, Garry L, Armstrong, Katrina L, Faunce, Thomas A, Wilcken, Bridget M, Boneh, Avihu, Geelhoed, Elizabeth, Craig, Maria E

Journal:

The Medical Journal of Australia

Year:

2010

File:

PDF, 54 KB

2010

24

SCREENING FOR METABOLIC DISEASES IN NEW SOUTH WALES

WILCKEN, BRIDGET, SMITH, ARABELLA, GAHA, T. J., MCLEAY, A. C., BROWN, D. A.

Journal:

The Medical Journal of Australia

Year:

1973

File:

PDF, 523 KB

1973

25

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

Wilcken, Bridget

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 180 KB

english, 2016

26

HEARING LOSS IN BIOTINIDASE DEFICIENCY

Wolf, B, Grier, R.E, Heard, G.S, Wilcken, Bridget, Hammond, Judith

Journal:

Year:

1983

Language:

english

File:

PDF, 317 KB

english, 1983

27

Postpartum Maternal Iodine Status and the Relationship to Neonatal Thyroid Function

Chan, Sophie S.Y., Hams, Graham, Wiley, Veronica, Wilcken, Bridget, McElduff, Aidan

Journal:

Year:

2003

Language:

english

File:

PDF, 113 KB

english, 2003

28

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

Wilcken, Bridget

Journal:

International Journal of Neonatal Screening

Year:

2018

Language:

english

File:

PDF, 173 KB

english, 2018

29

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

30

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

31

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

Bridget Wilcken, Veronica Wiley, Keow Giak Sim, Kevin Carpenter

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001

32

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

Wilcken, Bridget

Journal:

Year:

1993

Language:

english

File:

PDF, 1.77 MB

english, 1993

33

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

Coffey, Michael J., Whitaker, Viola, Gentin, Natalie, Junek, Rosie, Shalhoub, Carolyn, Nightingale, Scott, Hilton, Jodi, Wiley, Veronica, Wilcken, Bridget, Gaskin, Kevin J., Ooi, Chee Y.

Journal:

Obstetric and Gynecologic Survey

Year:

2017

Language:

english

File:

PDF, 88 KB

english, 2017

34

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

35

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

36

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

37

Reply

Bridget Wilcken, A.R.D. Brown, D.A. Brown

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 94 KB

english, 1983

38

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

Lain, Samantha J, Bentley, Jason P, Wiley, Veronica, Roberts, Christine L, Jack, Michelle, Wilcken, Bridget, Nassar, Natasha

Journal:

The Lancet Diabetes & Endocrinology

Year:

2016

Language:

english

File:

PDF, 363 KB

english, 2016

39

Pancreatic function and extended mutation analysis in ΔF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels

R.John Massie, Bridget Wilcken, Peter Van Asperen, Stuart Dorney, Margie Gruca, Veronica Wiley, Kevin Gaskin

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 98 KB

english, 2000

40

Perimortem laboratory investigation of genetic metabolic disorders

John Christodoulou, Bridget Wilcken

Journal:

Seminars in Neonatology

Year:

2004

Language:

english

File:

PDF, 101 KB

english, 2004

41

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

42

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

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

European best practice guidelines for cystic fibrosis neonatal screening

Carlo Castellani, Kevin W. Southern, Keith Brownlee, Jeannette Dankert Roelse, Alistair Duff, Michael Farrell, Anil Mehta, Anne Munck, Rodney Pollitt, Isabelle Sermet-Gaudelus, Bridget Wilcken, Manfre

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 968 KB

english, 2009

45

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

Bridget Wilcken, A.R.D. Brown, Ruth Urwin, D.A. Brown

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 349 KB

english, 1983

46

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

Estrella, Jane, Yee, Gary, Wilcken, Bridget, Tchan, Michel, Talbot, Michael

Journal:

Surgery for Obesity and Related Diseases

Year:

2014

Language:

english

File:

PDF, 304 KB

english, 2014

47

Book Review Inborn Metabolic Diseases: Diagnosis and Treatment Third edition. Edited by J. Fernandes, J.-M. Saudubray, and G. Van den Berghe. 467 pp., illustrated. New York, Springer-Verlag, 2000. $119. 3-540-65626-X Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology By Enid Gilbert-Barness and Lewis A. Barness. 930 pp. in two volumes, illustrated. Natick, Mass., Eaton, 2000. $279. 1-881299-11-2

Wilcken, Bridget

Journal:

Boston Medical and Surgical Journal

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

48

Hawkinsinuria

Wilcken, Bridget, Hammond, Judith W., Howard, Neville, Bohane, Timothy, Hocart, Charles, Halpern, Berthold

Journal:

Boston Medical and Surgical Journal

Year:

1981

Language:

english

File:

PDF, 774 KB

english, 1981

49

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

50

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

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