Bridget Wilcken

Bridget Wilcken

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Bridget Wilcken

Publications by authors named "Bridget Wilcken"

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Association or causation: Symptoms and rare disease.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2019 Sep 17;42(5):729. Epub 2019 Jul 17.

Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/jimd.12141DOI Listing
September 2019

Screening for spinal muscular atrophy.

Med J Aust 2018 08;209(4):147-148

Sydney Children's Hospital, Sydney, NSW.

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August 2018

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

JIMD Rep 2019 20;44:17-21. Epub 2018 Jun 20.

Centre for Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1007/8904_2018_117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323021PMC
June 2018

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

J Pediatr 2017 02 10;181:137-145.e1. Epub 2016 Nov 10.

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, Australia; Department of Gastroenterology, Sydney Children's Hospital Randwick, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.10.045DOI Listing
February 2017

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

Mol Genet Metab 2016 09 14;119(1-2):83-90. Epub 2016 Jun 14.

Department of Medical Genomics, Royal Prince Alfred Hospital, The University of Sydney, NSW 2050, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.008DOI Listing
September 2016

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

Lancet Diabetes Endocrinol 2016 09 22;4(9):756-765. Epub 2016 Jul 22.

Clinical and Population Perinatal Health Research, Kolling Institute, Northern Sydney Local Health District, St Leonards, NSW, Australia; Sydney Medical School Northern, University of Sydney, Sydney, NSW, Australia; Child Health Research, Menzies Centre for Health Policy, Sydney School of Public Health Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/S2213-8587(16)30122-XDOI Listing
September 2016

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

Authors:
Bridget Wilcken

J Inherit Metab Dis 2016 Mar 11;39(2):171-2. Epub 2015 Dec 11.

The Sydney Children's Hospitals Network and Sydney University, Sydney, NSW, Australia.

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http://dx.doi.org/10.1007/s10545-015-9906-9DOI Listing
March 2016

Treatments for rare diseases: molybdenum cofactor deficiency.

Authors:
Bridget Wilcken

Lancet 2015 Nov 3;386(10007):1924-5. Epub 2015 Sep 3.

Sydney Children's Hospitals Network and University of Sydney, Sydney, NSW 2145, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01406736150012
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http://dx.doi.org/10.1016/S0140-6736(15)00125-7DOI Listing
November 2015

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

J Paediatr Child Health 2015 Jun 26;51(6):620-5. Epub 2014 Nov 26.

Clinical and Population Perinatal Health Research, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12783DOI Listing
June 2015

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

Surg Obes Relat Dis 2014 May-Jun;10(3):e35-8. Epub 2013 Nov 12.

St. George Hospital, Sydney, Australia.

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http://dx.doi.org/10.1016/j.soard.2013.10.020DOI Listing
May 2015

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

J Inherit Metab Dis 2015 Mar 21;38(2):287-94. Epub 2014 Oct 21.

Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Ke Karlovu 2, 128 08, Praha 2, Czech Republic.

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http://dx.doi.org/10.1007/s10545-014-9781-9DOI Listing
March 2015

Fifty years of newborn screening.

J Paediatr Child Health 2015 Jan;51(1):103-7

The Children's Hospital at Westmead, The University of Sydney, Sydney, New South Wales, Australia.

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http://doi.wiley.com/10.1111/jpc.12817
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http://dx.doi.org/10.1111/jpc.12817DOI Listing
January 2015

Expanded newborn screening in New South Wales: missed cases.

J Inherit Metab Dis 2014 Nov 27;37(6):881-7. Epub 2014 Jun 27.

Department of Medical Genetics Westmead Hospital, Sydney, Australia.

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http://dx.doi.org/10.1007/s10545-014-9727-2DOI Listing
November 2014

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

JIMD Rep 2014 26;17:67-70. Epub 2014 Sep 26.

T.Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1007/8904_2014_338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241198PMC
November 2014

The ward round.

Authors:
Bridget Wilcken

J Paediatr Child Health 2014 Aug;50(8):660

Biochemical Genetics and Newborn Screening, Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1111/jpc.12641
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http://dx.doi.org/10.1111/jpc.12641DOI Listing
August 2014

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

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Medicine. Newborn screening: gaps in the evidence.

Authors:
Bridget Wilcken

Science 2013 Oct;342(6155):197-8

The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.

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http://dx.doi.org/10.1126/science.1243944DOI Listing
October 2013

Congenital adrenal hyperplasia: one hundred years of data.

Authors:
Bridget Wilcken

Lancet Diabetes Endocrinol 2013 Sep 26;1(1):4-5. Epub 2013 Feb 26.

Sydney Children's Hospitals Network and University of Sydney, Sydney, Australia. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S221385871370009
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http://dx.doi.org/10.1016/S2213-8587(13)70009-3DOI Listing
September 2013

Maternal attitudes to newborn screening for fragile X syndrome.

Am J Med Genet A 2013 Feb 9;161A(2):301-11. Epub 2013 Jan 9.

Genetics of Learning Disability, Hunter Genetics, Waratah, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35752DOI Listing
February 2013

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

JIMD Rep 2012 13;5:1-6. Epub 2011 Dec 13.

Discipline of Paediatrics and Child Health, University of Sydney, The Children's Hospital at Westmead Clinical School, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://link.springer.com/10.1007/8904_2011_109
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http://dx.doi.org/10.1007/8904_2011_109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509913PMC
February 2013

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1038/gim.2012.2DOI Listing
July 2012

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

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

Newborn screening for metabolic disorders: how are we doing, and where are we going?

Clin Chem 2012 Feb 24;58(2):324-31. Epub 2011 Aug 24.

Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2011.171215DOI Listing
February 2012

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

Authors:
Bridget Wilcken

Pathology 2012 Feb;44(2):73-9

The Children's Hospital at Westmead and University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/PAT.0b013e32834e843fDOI Listing
February 2012

Leukoencephalopathies associated with disorders of cobalamin and folate metabolism.

Authors:
Bridget Wilcken

Semin Neurol 2012 Feb 15;32(1):68-74. Epub 2012 Mar 15.

Discipline of Paediatrics, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1055/s-0032-1306389DOI Listing
February 2012

Clinical practice and the development of evidence.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2012 Jan;35(1):3-4

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http://dx.doi.org/10.1007/s10545-011-9380-yDOI Listing
January 2012

Neonatal screening for lysosomal storage disorders.

Lancet 2012 Jan 29;379(9813):294-5. Epub 2011 Nov 29.

Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/S0140-6736(11)61744-3DOI Listing
January 2012

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

N Z Med J 2012 Jan 20;125(1348):42-50. Epub 2012 Jan 20.

Newborn Metabolic Screening Unit, LabPlus, Auckland City Hospital, Auckland, New Zealand.

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January 2012

Long-term outcomes for patients with cystic fibrosis in Australia.

Med J Aust 2011 Oct;195(7):370-1

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http://dx.doi.org/10.5694/mja11.11111DOI Listing
October 2011

Ethical issues in genetics.

Authors:
Bridget Wilcken

J Paediatr Child Health 2011 Sep;47(9):668-71

Biochemical Genetics and Newborn Screening Departments, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02168.xDOI Listing
September 2011

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

J Inherit Metab Dis 2011 Jun 19;34(3):827-33. Epub 2011 Feb 19.

The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1007/s10545-011-9286-8DOI Listing
June 2011

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

Authors:
Bridget Wilcken

J Inherit Metab Dis 2011 Jun 16;34(3):569-74. Epub 2011 Apr 16.

The Children's Hospital at Westmead, Locked bag 4001, Westmead NSW 2145, Australia.

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http://dx.doi.org/10.1007/s10545-011-9326-4DOI Listing
June 2011

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

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Fatty acid oxidation disorders: outcome and long-term prognosis.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2010 Oct 5;33(5):501-6. Epub 2010 Jan 5.

Biochemical Genetics and Newborn Screening, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1007/s10545-009-9001-1DOI Listing
October 2010

Expanded newborn screening: reducing harm, assessing benefit.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2010 Oct 4;33(Suppl 2):S205-10. Epub 2010 May 4.

Biochemical Genetics and Newborn Screening, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, NSW, Australia.

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http://link.springer.com/10.1007/s10545-010-9106-6
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http://dx.doi.org/10.1007/s10545-010-9106-6DOI Listing
October 2010

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders.

J Inherit Metab Dis 2010 Oct 10;33(5):555-61. Epub 2010 Sep 10.

Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s10545-010-9188-1DOI Listing
October 2010

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

Clin Chem 2010 Jun 22;56(6):1015-21. Epub 2010 Apr 22.

MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1373/clinchem.2010.143891DOI Listing
June 2010

Cystic fibrosis: refining the approach to newborn screening.

Authors:
Bridget Wilcken

J Pediatr 2009 Nov;155(5):605-6

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http://dx.doi.org/10.1016/j.jpeds.2009.05.015DOI Listing
November 2009

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

Mol Ther 2009 Aug 21;17(8):1340-6. Epub 2009 Apr 21.

Gene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead, Wentworthville, New South Wales, Australia.

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http://search.proquest.com/openview/5b0c9b2174ddd97076d4e18f
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http://www.nature.com/doifinder/10.1038/mt.2009.88
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http://dx.doi.org/10.1038/mt.2009.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835243PMC
August 2009

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

Health Policy 2009 Mar 26;89(3):252-60. Epub 2008 Sep 26.

Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia.

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http://dx.doi.org/10.1016/j.healthpol.2008.08.003DOI Listing
March 2009

Economic evaluation of tandem mass spectrometry newborn screening in Australia.

Pediatrics 2009 Feb;123(2):451-7

Centre for Health Economics Research and Evaluation, University of Technology, Sydney, PO Box 123, Broadway, Sydney 2007, Australia.

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http://dx.doi.org/10.1542/peds.2008-0911DOI Listing
February 2009

Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome.

Child Neuropsychol 2009 Jan;15(1):8-20

The Children's Hospital at Westmead, Developmental Cognitive Neuropsychology Research Unit, Sydney, Australia.

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http://dx.doi.org/10.1080/09297040701864570DOI Listing
January 2009

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

Paediatr Respir Rev 2008 Dec 31;9(4):290-4. Epub 2008 Oct 31.

Department of Respiratory Medicine, The Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, The University of Sydney, Westmead 2145, NSW, Australia.

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http://dx.doi.org/10.1016/j.prrv.2008.09.004DOI Listing
December 2008

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

Authors:
Bridget Wilcken

Ann Acad Med Singapore 2008 Dec;37(12 Suppl):36-3

The Children's Hospital at Westmead and University of Sydney, Australia.

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December 2008

Improving child health--newborn screening for all?

Authors:
Bridget Wilcken

Ann Acad Med Singapore 2008 Dec;37(12 Suppl)

The Children's Hospital at Westmead and University of Sydney, Sydney, Australia.

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December 2008

Disorders of the carnitine cycle and detection by newborn screening.

Authors:
Bridget Wilcken

Ann Acad Med Singapore 2008 Dec;37(12 Suppl):71-3

NSW Biochemical Genetics and Newborn Screening Service, The Children's Hospital at Westmead and University of Sydney, Australia.

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December 2008

Newborn screening.

Pathology 2008 Feb;40(2):104-15

The Children's Hospital, Westmead, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251632409
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http://dx.doi.org/10.1080/00313020701813743DOI Listing
February 2008

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

Authors:
Bridget Wilcken

N Engl J Med 2008 Feb;358(6):647; author reply 647

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http://dx.doi.org/10.1056/NEJMc073220DOI Listing
February 2008

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

Pediatr Neurol 2007 Oct;37(4):283-6

Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.05.016DOI Listing
October 2007

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

N Z Med J 2007 Sep 21;120(1262):U2727. Epub 2007 Sep 21.

Newborn Metabolic Screening Unit, LapPlus, Auckland City Hospital, Auckland.

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September 2007

Newborn screening for cystic fibrosis: techniques and strategies.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2007 Aug 12;30(4):537-43. Epub 2007 May 12.

Biochemical Genetics and Newborn Screening, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, NSW 2145, Australia.

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http://dx.doi.org/10.1007/s10545-007-0584-0DOI Listing
August 2007

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

J Pediatr 2007 Aug 14;151(2):121-6, 126.e1. Epub 2007 Jun 14.

Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2007.03.011DOI Listing
August 2007

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

Mol Genet Metab 2007 May 23;91(1):48-54. Epub 2007 Mar 23.

Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.002DOI Listing
May 2007

More evidence to favour newborn screening for cystic fibrosis.

Lancet 2007 Apr;369(9568):1146-7

Children's Hospital at Westmead, NSW 2145, and University of Sydney, Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/S0140-6736(07)60540-6DOI Listing
April 2007

Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery.

Med J Aust 2007 Apr;186(8):418-9

Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW.

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April 2007

Mini-symposium: newborn screening for inborn errors of metabolism--clinical effectiveness.

Authors:
Bridget Wilcken

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):366-9

The Children's Hospital at Westmead, and the Discipline of Paediatrics, University of Sydney, Locked Bag 4001, Westmead NSW, 2145, Sydney, Australia.

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http://dx.doi.org/10.1007/s10545-005-0254-zDOI Listing
January 2007

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):383-9

Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-006-0278-zDOI Listing
January 2007

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

Biochim Biophys Acta 2006 Jun;1762(6):598-607

Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children's Hospital at Westmead, NSW Sydney, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S092544390600053
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http://dx.doi.org/10.1016/j.bbadis.2006.03.009DOI Listing
June 2006

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

Med J Aust 2006 Jun;184(12):617-20

Central Coast Public Health Unit, Northern Sydney Central Coast Area Health Service, Gosford, NSW, Australia.

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June 2006

Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function.

J Inherit Metab Dis 2006 Feb;29(1):30-7

University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.1007/s10545-006-0208-0DOI Listing
February 2006

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

Mol Genet Metab 2006 Jan 15;87(1):32-9. Epub 2005 Nov 15.

The NSW Newborn Screening Programme, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2005.09.020DOI Listing
January 2006

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

Mol Genet Metab 2005 Dec 8;86 Suppl 1:S81-5. Epub 2005 Aug 8.

Department of Genetics, Montreal Children's Hospital, Montreal, Canada H3H 1P3.

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http://dx.doi.org/10.1016/j.ymgme.2005.06.008DOI Listing
December 2005

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

J Clin Endocrinol Metab 2005 Dec 6;90(12):6361-3. Epub 2005 Sep 6.

Department of Endocrinology, Royal North Shore Hospital, St. Leonards 2065, Australia.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2005-0786DOI Listing
December 2005

History of the International Society for Neonatal Screening.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:3-5

Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.

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July 2005

Evaluating outcomes of newborn screening programs.

Authors:
Bridget Wilcken

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:13-8

New South Wales Newborn Screening Program, The Children's Hospital at Westmead, Sydney, Australia.

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July 2005

Information overload--new technologies, can we store the data?

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:59-62

The NSW Newborn Screening Program The Children's Hospital at Westmead, Sydney, NSW, Australia.

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July 2005

Newborn screening--is it really that simple?

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:107-10

The Children's Hospital at Westmead, Sydney, NSW, Australia.

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July 2005

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

Authors:
Bridget Wilcken

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:198-201

The Children's Hospital at Westmead, Sydney, Australia.

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July 2005

Acute presentation of childhood hypothyroidism.

Med J Aust 2005 Feb;182(4):200

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February 2005

Perimortem laboratory investigation of genetic metabolic disorders.

Semin Neonatol 2004 Aug;9(4):275-80

Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Australia.

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http://dx.doi.org/10.1016/j.siny.2003.10.004DOI Listing
August 2004

Problems in the management of urea cycle disorders.

Authors:
Bridget Wilcken

Mol Genet Metab 2004 Apr;81 Suppl 1:S86-91

The Children's Hospital at Westmead and the Discipline of Paediatrics, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2003.10.016DOI Listing
April 2004

Screening of newborns for metabolic disorders with mass spectrometry.

Authors:
Bridget Wilcken

JAMA 2004 Mar;291(12):1444; author reply 1444-5

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http://dx.doi.org/10.1001/jama.291.12.1444-bDOI Listing
March 2004

Ethical issues in newborn screening and the impact of new technologies.

Authors:
Bridget Wilcken

Eur J Pediatr 2003 Dec 14;162 Suppl 1:S62-6. Epub 2003 Nov 14.

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.

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http://dx.doi.org/10.1007/s00431-003-1355-zDOI Listing
December 2003

Newborn screening methods for cystic fibrosis.

Paediatr Respir Rev 2003 Dec;4(4):272-7

New South Wales Newborn Screening Programme, The Children's Hospital at Westmead, Sydney, Australia.

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December 2003

Does every baby get a newborn screening test?

Med J Aust 2003 Oct;179(8):400-1

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October 2003

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

Thyroid 2003 Sep;13(9):873-6

Department of Endocrinology, Royal North Shore Hospital, St Leonards, Australia.

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https://www.liebertpub.com/doi/10.1089/105072503322401078
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http://dx.doi.org/10.1089/105072503322401078DOI Listing
September 2003

Investigation of epistasis between the serotonin transporter and norepinephrine transporter genes in anorexia nervosa.

Neuropsychopharmacology 2003 Jul 14;28(7):1351-5. Epub 2003 May 14.

Department of Psychological Medicine, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1038/sj.npp.1300204DOI Listing
July 2003

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

N Engl J Med 2003 Jun;348(23):2304-12

New South Wales Newborn Screening Programme, the Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1056/NEJMoa025225DOI Listing
June 2003

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

Hum Mutat 2003 Apr;21(4):401-7

Department of General Paediatrics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.10202DOI Listing
April 2003

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

Clin Chim Acta 2002 Sep;323(1-2):37-58

New South Wales Biochemical Genetics Service, The Children's Hospital at Westmead, Sydney, Australia. .au

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http://dx.doi.org/10.1016/s0009-8981(02)00182-1DOI Listing
September 2002

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Hum Mutat 2002 Aug;20(2):117-26

Cardiovascular Genetics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.10104DOI Listing
August 2002

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

Mol Genet Metab 2002 Aug;76(4):327-34

Department of Paediatrics and Child Health, University of Sydney, NSW, Australia.

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August 2002

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

Med J Aust 2002 Apr;176(7):317-20

Department of Endocrinology, Royal North Shore Hospital, St Leonards, NSW.

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April 2002

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.

Mov Disord 2002 Mar;17(2):354-9

Department of Neurology, Royal Alexandra Hospital for Children Westmead, Sydney, Australia.

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March 2002