Publications by authors named "Dianne Frazier"

14Publications

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:
Laura V Milko Julianne M O'Daniel Daniela M DeCristo Stephanie B Crowley Ann Katherine M Foreman Kathleen E Wallace Lonna F Mollison Natasha T Strande Zahra S Girnary Lacey J Boshe Arthur S Aylsworth Muge Gucsavas-Calikoglu Dianne M Frazier Neeta L Vora Myra I Roche Bradford C Powell Cynthia M Powell Jonathan S Berg

J Pediatr 2019 06 7;209:68-76. Epub 2019 Mar 7.

Department of Genetics, UNC Chapel Hill, Chapel Hill, NC. Electronic address:

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June 2019

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.

Authors:
Rani H Singh Amy C Cunningham Shideh Mofidi Teresa D Douglas Dianne M Frazier Debra Geary Hook Laura Jeffers Helen McCune Kathryn D Moseley Beth Ogata Surekha Pendyal Jill Skrabal Patricia L Splett Adrya Stembridge Ann Wessel Frances Rohr

Mol Genet Metab 2016 06 17;118(2):72-83. Epub 2016 Apr 17.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Electronic address:

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June 2016

Role of medical food in MMA.

Authors:
Amy Cunningham Dianne Frazier Barbara Marriage Shideh Mofidi Beth Ogata Fran Rohr Keiko Ueda Sandra Van Calcar Steven Yannicelli

Genet Med 2016 Apr 10;18(4):413-4. Epub 2016 Mar 10.

Medical and Scientific Affairs, Nutricia North America, Rockville, Maryland, USA.

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April 2016

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

Authors:
Dianne M Frazier Courtney Allgeier Caroline Homer Barbara J Marriage Beth Ogata Frances Rohr Patricia L Splett Adrya Stembridge Rani H Singh

Mol Genet Metab 2014 Jul 17;112(3):210-7. Epub 2014 May 17.

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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July 2014

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Authors:
Sander M Houten Simone Denis Heleen Te Brinke Aldo Jongejan Antoine H C van Kampen Edward J Bradley Frank Baas Raoul C M Hennekam David S Millington Sarah P Young Dianne M Frazier Muge Gucsavas-Calikoglu Ronald J A Wanders

Hum Mol Genet 2014 Sep 8;23(18):5009-16. Epub 2014 May 8.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital.

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September 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Authors:
Kathryn M Camp Melissa A Parisi Phyllis B Acosta Gerard T Berry Deborah A Bilder Nenad Blau Olaf A Bodamer Jeffrey P Brosco Christine S Brown Alberto B Burlina Barbara K Burton Christine S Chang Paul M Coates Amy C Cunningham Steven F Dobrowolski John H Ferguson Thomas D Franklin Dianne M Frazier Dorothy K Grange Carol L Greene Stephen C Groft Cary O Harding R Rodney Howell Kathleen L Huntington Henrietta D Hyatt-Knorr Indira P Jevaji Harvey L Levy Uta Lichter-Konecki Mary Lou Lindegren Michele A Lloyd-Puryear Kimberlee Matalon Anita MacDonald Melissa L McPheeters John J Mitchell Shideh Mofidi Kathryn D Moseley Christine M Mueller Andrew E Mulberg Lata S Nerurkar Beth N Ogata Anne R Pariser Suyash Prasad Gabriella Pridjian Sonja A Rasmussen Uma M Reddy Frances J Rohr Rani H Singh Sandra M Sirrs Stephanie E Stremer Danilo A Tagle Susan M Thompson Tiina K Urv Jeanine R Utz Francjan van Spronsen Jerry Vockley Susan E Waisbren Linda S Weglicki Desirée A White Chester B Whitley Benjamin S Wilfond Steven Yannicelli Justin M Young

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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June 2014

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.

Authors:
Rani H Singh Fran Rohr Dianne Frazier Amy Cunningham Shideh Mofidi Beth Ogata Patricia L Splett Kathryn Moseley Kathleen Huntington Phyllis B Acosta Jerry Vockley Sandra C Van Calcar

Genet Med 2014 Feb 2;16(2):121-31. Epub 2014 Jan 2.

Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

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February 2014

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Authors:
Jerry Vockley Hans C Andersson Kevin M Antshel Nancy E Braverman Barbara K Burton Dianne M Frazier John Mitchell Wendy E Smith Barry H Thompson Susan A Berry

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

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February 2014

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Authors:
Kathryn M Camp Michele A Lloyd-Puryear Lynne Yao Stephen C Groft Melissa A Parisi Andrew Mulberg Rashmi Gopal-Srivastava Stephen Cederbaum Gregory M Enns Abby G Ershow Dianne M Frazier John Gohagan Cary Harding R Rodney Howell Karen Regan Peter W Stacpoole Charles Venditti Jerry Vockley Michael Watson Paul M Coates

Mol Genet Metab 2013 Aug 23;109(4):319-28. Epub 2013 May 23.

Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA.

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August 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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July 2012

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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March 2011

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

Authors:
Alice A Basinger Jessica K Booker Dianne M Frazier Dwight D Koeberl Jennifer A Sullivan Joseph Muenzer

Mol Genet Metab 2006 May 8;88(1):90-2. Epub 2006 Feb 8.

Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA.

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May 2006

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

Authors:
Linda O'Reilly Peter Bross Thomas J Corydon Simon E Olpin Jakob Hansen John M Kenney Shawn E McCandless Dianne M Frazier Vibeke Winter Niels Gregersen Paul C Engel Brage Storstein Andresen

Eur J Biochem 2004 Oct;271(20):4053-63

Department of Biochemistry and the Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Ireland.

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October 2004

Barriers to successful dietary control among pregnant women with phenylketonuria.

Authors:
Amanda Savage Brown Paul M Fernhoff Susan E Waisbren Dianne M Frazier Rani Singh Fran Rohr Jill M Morris Aileen Kenneson Pia MacDonald Marta Gwinn Margaret Honein Sonja A Rasmussen

Genet Med 2002 Mar-Apr;4(2):84-9

Division of Applied Public Health Training, Epidemiology Program Office, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.

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June 2002