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51

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

Keow Giak Sim, Kevin Carpenter, Judith Hammond, John Christodoulou, Bridget Wilcken

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 111 KB

english, 2002

52

Newborn screening methods for cystic fibrosis

Bridget Wilcken, Veronica Wiley

Journal:

Paediatric Respiratory Reviews

Year:

2003

Language:

english

File:

PDF, 114 KB

english, 2003

53

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

Albert Tangerman, Bridget Wilcken, Harvey L. Levy, Godfried H.J. Boers, S.Harvey Mudd

Journal:

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

54

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, Kevin Carpenter, Judith Hammond, John Christodoulou, Bridget Wilcken

Journal:

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

55

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

56

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

57

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Wilcken, Bridget, Wiley, Veronica, Hammond, Judith, Carpenter, Kevin

Journal:

Boston Medical and Surgical Journal

Year:

2003

Language:

english

File:

PDF, 106 KB

english, 2003

58

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

Kin-Chuen Leung, Judith W. Hammond, Shilpi Chabra, Kevin H. Carpenter, Mary Potter, Bridget Wilcken

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 328 KB

english, 1992

59

GENETIC SCREENING OF THE NEWBORN IN AUSTRALIA

D. PITT, J. CONNELLY, I. FRANCIS, BRIDGET WiLCKEN, G. HILL, P. MASTERS, R. G. TUCKER, J. RABY, JEAN McFARLANE

Journal:

Journal of Paediatrics and Child Health

Year:

1978

Language:

english

File:

PDF, 73 KB

english, 1978

60

LETTERS TO THE EDITOR

Dr. Bridget Wilcken

Journal:

Journal of Paediatrics and Child Health

Year:

1981

Language:

english

File:

PDF, 107 KB

english, 1981

61

Maternal attitudes to newborn screening for fragile X syndrome

Christie, Louise, Wotton, Tiffany, Bennetts, Bruce, Wiley, Veronica, Wilcken, Bridget, Rogers, Carolyn, Boyle, Jackie, Turner, Catherine, Hansen, Jessica, Hunter, Matthew, Goel, Himanshu, Field, Micha

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 218 KB

english, 2013

62

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

63

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

64

Methylmalonic aciduria: A variant form of methylmalonyl coenzyme A apomutase deficiency

Bridget Wilcken, H.A. Kilham, K. Faull

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 258 KB

english, 1977

65

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

66

Reply

Bridget Wilcken, A.R.D. Brown

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 71 KB

english, 1983

67

Reply

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

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 98 KB

english, 1983

68

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

69

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

70

Tyrosine supplementation as an adjunct treatment in anorexia nervosa – a noradrenergic repletion hypothesis

Hart, Melissa, Wilcken, Bridget, Williams, Lauren T., Sibbritt, David, Nunn, Kenneth Patrick

Journal:

Advances in Eating Disorders

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

71

Obituaries

Wilcken, Bridget

Journal:

Year:

1992

Language:

english

File:

PDF, 784 KB

english, 1992

72

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

73

SURVIVAL IN CYSTIC FIBROSIS

Anderson, CharlotteM., Wilcken, Bridget

Journal:

Year:

1984

Language:

english

File:

PDF, 300 KB

english, 1984

74

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

75

SEQUELÆ OF COVERT BACTERIURIA IN SCHOOLGIRLS

Turner, Gillian, Rosenberg, Andrew, Farnsworth, Robert, Wilcken, Bridget, Robinson, Hazel

Journal:

Year:

1978

Language:

english

File:

PDF, 171 KB

english, 1978

76

Congenital adrenal hyperplasia: one hundred years of data

Wilcken, Bridget

Journal:

The Lancet Diabetes & Endocrinology

Year:

2013

Language:

english

File:

PDF, 124 KB

english, 2013

77

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

Fraser, IanS., Shearman, RodneyP., Wilcken, Bridget, Brown, Andrew, Davis, Keith

Journal:

Year:

1987

Language:

english

File:

PDF, 182 KB

english, 1987

78

DIAGNOSIS OF CYSTIC FIBROSIS

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

Journal:

Year:

1987

Language:

english

File:

PDF, 163 KB

english, 1987

79

REDUCED MORBIDITY IN PATIENTS WITH CYSTIC FIBROSIS DETECTED BY NEONATAL SCREENING

Wilcken, Bridget, Chalmers, Gwen

Journal:

Year:

1985

Language:

english

File:

PDF, 397 KB

english, 1985

80

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

81

INCIDENCE OF HOMOCYSTINURIA

Wilcken, Bridget

Journal:

Year:

1975

Language:

english

File:

PDF, 306 KB

english, 1975

82

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

83

The ward round

Wilcken, Bridget

Journal:

Journal of Paediatrics and Child Health

Year:

2014

Language:

english

File:

PDF, 54 KB

english, 2014

84

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

Joy, Pamela, Black, Carly, Rocca, Antonella, Haas, Marian, Wilcken, Bridget

Journal:

Child Neuropsychology

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

85

Fifty years of newborn screening

Wilcken, Bridget, Wiley, Veronica

Journal:

Journal of Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 248 KB

english, 2015

86

Neonatal Thyrotropin as Measured in a Congenital Hypothyroidism Screening Program: Influence of the Mode of Delivery

McElduff, Aidan, McElduff, Patrick, Wiley, Veronica, Wilcken, Bridget

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

87

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

88

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

89

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

Melenovská, Petra, Kopecká, Jana, Krijt, Jakub, Hnízda, Aleš, Raková, Kateřina, Janošík, Miroslav, Wilcken, Bridget, Kožich, Viktor

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 430 KB

english, 2015

90

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

Urwin, Ruth E, Bennetts, Bruce H, Wilcken, Bridget, Beumont, Pierre J V, Russell, Janice D, Nunn, Kenneth P

Journal:

Neuropsychopharmacology

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

91

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

Wilcken, Bridget

Journal:

Boston Medical and Surgical Journal

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

92

Treatments for rare diseases: molybdenum cofactor deficiency

Wilcken, Bridget

Journal:

Year:

2015

Language:

english

File:

PDF, 235 KB

english, 2015

93

Vascular Complications of Severe Hyperhomocysteinemia in Patients with Homocystinuria Due to Cystathionine β-Synthase Deficiency: Effects of Homocysteine-Lowering Therapy

YAP, SUFIN, NAUGHTEN, EILEEN R., WILCKEN, BRIDGET, WILCKEN, DAVID E.L., BOERS, GODFRIED H.J.

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

94

Pancreatic Function in Infants Identified as Having Cystic Fibrosis in a Neonatal Screening Program

Waters, Donna L., Dorney, Stuart F.A., Gaskin, Kevin J., Gruca, Margie A., O'Halloran, Mary, Wilcken, Bridget

Journal:

Boston Medical and Surgical Journal

Year:

1990

Language:

english

File:

PDF, 985 KB

english, 1990

95

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

Cunningham, Sharon C, Spinoulas, Afroditi, Carpenter, Kevin H, Wilcken, Bridget, Kuchel, Philip W, Alexander, Ian E

Journal:

Molecular Therapy

Year:

2009

Language:

english

File:

PDF, 450 KB

english, 2009

96

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

97

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

Bridget, Wilcken

Journal:

Year:

2012

Language:

english

File:

PDF, 103 KB

english, 2012

98

Screening for hypothyroidism: Age of sample and chance of its falling below the cut-off point

Wilcken, Bridget

Journal:

Year:

1981

Language:

english

File:

PDF, 236 KB

english, 1981

99

Cystic fibrosis: onset of symptoms, delay in clinical diagnosis, and the implications for newborn screening

Wilcken, Bridget, Mellis, C.M., Towns, S.J., Brown, A.R.D.

Journal:

Year:

1984

Language:

english

File:

PDF, 188 KB

english, 1984

100

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

Wilcken, Bridget, Hammond, Judith, Silink, Martin

Journal:

Year:

1983

Language:

english

File:

PDF, 293 KB

english, 1983