B
Bridget Wilcken
Researcher at University of Sydney
Publications - 223
Citations - 11809
Bridget Wilcken is an academic researcher from University of Sydney. The author has contributed to research in topics: Newborn screening & Homocystinuria. The author has an hindex of 53, co-authored 223 publications receiving 11100 citations. Previous affiliations of Bridget Wilcken include University of Texas Health Science Center at San Antonio & Alexandra Hospital.
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Journal Article
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
S H Mudd,Flemming Skovby,H L Levy,K D Pettigrew,Bridget Wilcken,R E Pyeritz,Generoso Andria,Godfried H.J. Boers,I L Bromberg,R Cerone +9 more
TL;DR: An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment.
Journal ArticleDOI
Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry
TL;DR: More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically, and which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed.
Journal ArticleDOI
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
Bridget Wilcken,Fiona Bamforth,Zhu Li,H. Zhu,Annukka Ritvanen,M. Redlund,Claude Stoll,Yves Alembik,Beatrice Dott,Andrew E. Czeizel,Z. Gelman-Kohan,Gioacchino Scarano,S Bianca,G. Ettore,Romano Tenconi,S. Bellato,Iris Scala,Osvaldo M. Mutchinick,M. Lopez,H. E. K. De Walle,Robert M. W. Hofstra,L. Joutchenko,L. Kavteladze,Eva Bermejo,María Luisa Martínez-Frías,Margaret Gallagher,J D Erickson,Stein Emil Vollset,Pierpaolo Mastroiacovo,Generoso Andria,Lorenzo D. Botto +30 more
TL;DR: The aim was to supplement the available data by collecting a large and diverse sample of newborns from different geographical areas and ethnic groups, and to examine international variations in the distribution of the 677C>T allele.
Journal ArticleDOI
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
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 Mann Au,Christiane Auray-Blais,Mei W. Baker,Fiona Bamforth,Kinga Beckmann,Gessi Bentz Pino,Stanton L. Berberich,Robert J Binard,François Boemer,James R. Bonham,Nancy N. Breen,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.M. de Sain-van der Velden,Carmen Delgado Pecellin,Iole Maria Di Gangi,Cristina Di Stefano,Yannis Dotsikas,M. Downing,Stephen M. Downs,Bonifacio Dy,Mark Dymerski,Inmaculada Rueda,Bert Elvers,Roger B. Eaton,Barbara M. Eckerd,Fatma A. 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 Greed,Robert E. Grier,Elyse Grycki,Xuefan Gu,Fizza Gulamali-Majid,Arthur F. Hagar,Lianshu Han,W. Harry Hannon,Christa Haslip,Fayza A. Hassan,Miao He,Amy Hietala,Leslie Himstedt,Gary Hoffman,William Hoffman,Philis Hoggatt,Patrick V. Hopkins,David M. Hougaard,Kerie Hughes,Patricia Hunt,Wuh-Liang Hwu,June Hynes,Isabel Ibarra-González,Cindy A. Ingham,Maria Ivanova,Ward B. Jacox,Catharine John,John P. Johnson,Jon J. Jonsson,Eszter Karg,David C. Kasper,Brenda Klopper,Dimitris Katakouzinos,Issam Khneisser,Detlef Knoll,Hirinori Kobayashi,Ronald Koneski,Viktor Kožich,Rasoul Kouapei,Dirk Kohlmueller,Ivo Kremensky,Giancarlo la Marca,Marcia Lavochkin,Soo-Youn Lee,Denis C. Lehotay,Aida Lemes,Joyce Lepage,Barbara G. Lesko,Barry Lewis,Carol Lim,Sharon Linard,Martin Lindner,Michele A. Lloyd-Puryear,Fred Lorey,Yannis L. Loukas,Julie Luedtke,Maffitt Neil,J. Fergall Magee,Adrienne Manning,Shawn M. 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 McGill,Christine D. McKeever,Barbara McNeilly,Mark A. Morrissey,Paraskevi Moutsatsou,Eleanor A. Mulcahy,Dimitris Nikoloudis,Bent Nørgaard-Pedersen,Devin Oglesbee,Mariusz Ołtarzewski,Daniela Ombrone,Jelili Ojodu,Vagelis Papakonstantinou,Sherly Pardo Reoyo,Hyung Doo Park,Marzia Pasquali,Elisabetta Pasquini,Pallavi Patel,Kenneth A. Pass,Colleen K. Peterson,Rolf D. Pettersen,James 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 R. 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 Seeterlin,David E. Sesser,Darrin W. Sevier,Scott M. Shone,Graham Sinclair,Victor Anthony Skrinska,Eleanor 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,Sándor Túri,Kimberley Turner,Nick Tzanakos,Alf Valiente,Hillary Vallance,Marcela Vela-Amieva,Laura Vilarinho,Ulrika von Döbeln,Marie-Françoise 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 +245 more
TL;DR: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
Journal ArticleDOI
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Stefan Kölker,Ernst Christensen,James V. Leonard,Cheryl R. Greenberg,Avihu Boneh,Alberto Burlina,Alessandro P. Burlina,Marjorie Dixon,Marinus Duran,Angels Garcia Cazorla,Stephen I. Goodman,David M. Koeller,Mårten Kyllerman,Chris Mühlhausen,E. Müller,Jürgen G. Okun,Bridget Wilcken,Georg F. Hoffmann,Peter Burgard +18 more
TL;DR: The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.