Elaina Jurecki

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Authors:

Roberto Zori Kirsten Ahring Barbara Burton Gregory M Pastores Frank Rutsch Ashok Jha Elaina Jurecki Richard Rowell Cary Harding

Mol Genet Metab 2019 Sep - Oct;128(1-2):92-101. Epub 2019 Aug 7.

Oregon Health & Science University, Portland, OR, USA. Electronic address:

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April 2020

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Authors:

Barbara K Burton Kyle Bradford Jones Stephen Cederbaum Fran Rohr Susan Waisbren Debra E Irwin Gilwan Kim Joshua Lilienstein Ignacio Alvarez Elaina Jurecki Harvey Levy

Mol Genet Metab 2018 11 12;125(3):228-234. Epub 2018 Sep 12.

Boston Children's Hospital and Harvard Medical School, 1 Autumn St., Rm #526, Boston, MA 02115, United States.

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November 2018

Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.

Authors:

Deborah A Bilder Joyce A Kobori Jessica L Cohen-Pfeffer Erin M Johnson Elaina R Jurecki Mitzie L Grant

Mol Genet Metab 2017 05 6;121(1):1-8. Epub 2017 Mar 6.

Department of Psychiatry, Drexel University, College of Medicine, Philadelphia, PA, USA; Department of Pediatrics, Drexel University, College of Medicine, Philadelphia, PA, USA.

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May 2017

Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.

Authors:

Elaina Jurecki Amy Cunningham Vanessa Birardi Grégory Gagol Catherine Acquadro

Health Qual Life Outcomes 2017 Mar 9;15(1):46. Epub 2017 Mar 9.

Mapi Research Trust, 27 rue de la Villette, Lyon, 69003, France.

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March 2017

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Authors:

Christian J Hendriksz Kenneth I Berger Rossella Parini Moeenaldeen D AlSayed Julian Raiman Roberto Giugliani John J Mitchell Barbara K Burton Norberto Guelbert Fiona Stewart Derralynn A Hughes Robert Matousek Elaina Jurecki Celeste Decker Paul R Harmatz

J Inherit Metab Dis 2016 11 23;39(6):839-847. Epub 2016 Aug 23.

UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.

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November 2016

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Authors:

Christian J Hendriksz Rossella Parini Moeenaldeen D AlSayed Julian Raiman Roberto Giugliani Martha L Solano Villarreal John J Mitchell Barbara K Burton Norberto Guelbert Fiona Stewart Derralynn A Hughes Kenneth I Berger Peter Slasor Robert Matousek Elaina Jurecki Adam J Shaywitz Paul R Harmatz

Mol Genet Metab 2016 09 16;119(1-2):131-43. Epub 2016 Jun 16.

UCSF Benioff Children's Hospital Oakland, Oakland, CA, United States.

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September 2016

Sapropterin Dihydrochloride Mixed With Common Foods and Beverages.

Authors:

Elaina R Jurecki Amy Cunningham John J Mahoney Douglas Tingley Stanley Chung Neil James Jessica L Cohen-Pfeffer

Top Clin Nutr 2014 Oct;29(4):325-331

Medical Affairs (Ms Jurecki, Messrs Mahoney and James, and Dr Cohen-Pfeffer) and Quality and Process Development (Messrs Tingley and Chung), BioMarin Pharmaceutical, Inc, Novato, California; and Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana (Ms Cunningham).

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October 2014

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.

Authors:

Nicola Longo Komudi Siriwardena Annette Feigenbaum David Dimmock Barbara K Burton Sylvia Stockler Susan Waisbren William Lang Elaina Jurecki Charlie Zhang Suyash Prasad

Genet Med 2015 May 18;17(5):365-73. Epub 2014 Sep 18.

BioMarin Pharmaceutical, Inc., Novato, California, USA.

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May 2015

Newborn screening 50 years later: access issues faced by adults with PKU.

Authors:

Susan A Berry Christine Brown Mitzie Grant Carol L Greene Elaina Jurecki Jean Koch Kathryn Moseley Ruth Suter Sandra C van Calcar Judy Wiles Stephen Cederbaum

Genet Med 2013 Aug 7;15(8):591-9. Epub 2013 Mar 7.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.

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August 2013

Recommendations for the use of sapropterin in phenylketonuria.

Authors:

Amy Cunningham Heather Bausell Mary Brown Maggie Chapman Kari DeFouw Sharon Ernst Julie McClure Helen McCune Donna O'Steen Amy Pender Jill Skrabal Ann Wessel Elaina Jurecki Renée Shediac Suyash Prasad Jane Gillis Stephen Cederbaum

Mol Genet Metab 2012 Jul 13;106(3):269-76. Epub 2012 Apr 13.

Tulane Hayward Genetics Center, New Orleans, LA, USA.

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July 2012

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.

Authors:

Patricia Gordon Janet A Thomas Ruth Suter Elaina Jurecki

Mol Genet Metab 2012 Apr 8;105(4):672-6. Epub 2012 Jan 8.

Penn State Hershey Children's Hospital, Hershey, PA, USA.

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April 2012

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

Authors:

Barbara K Burton Darius J Adams Dorothy K Grange John I Malone Elaina Jurecki Heather Bausell Kayt D Marra Laurie Sprietsma Kathleen T Swan

J Pediatr 2011 Mar;158(3):410-5

Department of Pediatrics, Northwestern University Feinberg School of Medicine and PKU Clinic, Children's Memorial Hospital, Chicago, IL 60614-3363, USA.

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March 2011