Publications by authors named "Heather Bausell"

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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Júlio César Rocha, Kirsten K Ahring, Heather Bausell, Deborah A Bilder, Cary O Harding

Nutrients· September 2023

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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell

Orphanet J Rare Dis· June 2023

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Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.
Debra S Regier, Agata Bąk, Heather Bausell, Emer O'Reilly, Lex M Cowsert

Mol Genet Metab Rep· June 2022

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Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase.
Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel

Mol Genet Metab Rep· September 2021

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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Darius Adams, Hans C Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding

Mol Genet Metab Rep· September 2021

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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Nicola Longo, David Dimmock, Harvey Levy, Krista Viau, Heather Bausell

Genet Med· August 2019

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Practical aspects of recruitment and retention in clinical trials of rare genetic diseases: the phenylketonuria (PKU) experience.
Stephanie J DeWard, Ashley Wilson, Heather Bausell, Ashley S Volz, Kimberly Mooney

J Genet Couns· February 2014

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Recommendations for the use of sapropterin in phenylketonuria.
Amy Cunningham, Heather Bausell, Mary Brown, Maggie Chapman, Kari DeFouw

Mol Genet Metab· July 2012

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Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.
Barbara K Burton, Darius J Adams, Dorothy K Grange, John I Malone, Elaina Jurecki, Heather Bausell

J Pediatr· March 2011

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Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
Barbara K Burton, Heather Bausell, Rachel Katz, Holly Laduca, Christine Sullivan

Mol Genet Metab· January 2011

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