Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Heather Bausell"'
1
Akademický článek
Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
Autor: Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh
Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy a
Externí odkaz: https://doaj.org/article/264e6bcb79a14e2da31c2cdf1bfd4fc6
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2
Akademický článek
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates
Autor: Debra S. Regier, Agata Bąk, Heather Bausell, Emer O'Reilly, Lex M. Cowsert
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100855- (2022)
Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene for the enzyme phenylalanine hydroxylase. Resulting loss of phenylalanine (Phe) metabolism requires strict dietary therapy and/or medication to prevent toxic accu
Externí odkaz: https://doaj.org/article/f95ad70eced243569ab1f25d0af43842
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3
Akademický článek
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
Autor: Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100771- (2021)
Background: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical
Externí odkaz: https://doaj.org/article/7da1310c6578481e9e90c62904657daa
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4
Akademický článek
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Autor: Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100790- (2021)
Objective: To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Methods: Sixteen healthcare providers from 14 centers across the US with substantial clinical experience in
Externí odkaz: https://doaj.org/article/ada11824f433471c923593b05ad54c30
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5
Akademický článek
Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic
Autor: Janet Thomas MD, Mina Nguyen-Driver PsyD, Heather Bausell RD, LDN, Jane Breck MD, Javier Zambrano MD, Vanessa Birardi PharmD
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patien
Externí odkaz: https://doaj.org/article/63631d3eed86453ca417181d4908b9ec
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6
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
Autor: Hulya Gokmen-Ozel, Esther van Dam, Amaya Belanger-Quintana, Fran Rohr, Alexandra Jung, Júlio César Rocha, Laurie Bernstein, Anita MacDonald, Heather Bausell, Margret Heddrich-Ellerbrok
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100771-(2021)
Molecular genetics and metabolism reports, 28:100771. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Funding Information: Outside the submitted work, the authors disclose the following. Bausell H received personal fees from BioMarin, Ultragenyx, Horizon and Vitaflo. Bélanger-Quintana A reports personal fees from BioMarin, Nutricia, Vitaflo, Orphan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7938b8f45f942ba77838bd72abd58add
http://www.sciencedirect.com/science/article/pii/S2214426921000653
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7
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Autor: Heather Bausell, Harvey L. Levy, Krista Viau, Stephanie Sacharow, Cary O. Harding, Amarilis Sanchez-Valle, David Dimmock, Mary Stuy, Jerry Vockley, Fran Rohr, Christel Gross, Barbara K. Burton, Nicola Longo, Hope Northrup, Janet A. Thomas, Roberto T. Zori, Deborah A. Bilder
Publikováno v: Genetics in Medicine
Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range. The availability of pegvaliase (PALYNZIQ™, an enzyme that can metabolize Phe) as a new
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d821ad227819b1800318b0a7977449cc
https://doi.org/10.1038/s41436-018-0403-z
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9
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Autor: Joseph W. Ray, Janet A. Thomas, Heather Saavedra, Kea Crivelly, Erika Vucko, Stephanie Sacharow, Heather Bausell, Joshua Lilienstein, Hans C. Andersson, Darius Adams, Jennifer Tiffany-Amaro, Melissa Lah, Kaleigh B. Whitehall, Danielle Starin, Leah B. Wessenberg, Caroline Eggerding, Markey C. McNutt, Kristin Lindstrom
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100790-(2021)
Molecular Genetics and Metabolism Reports
Objective To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Methods Sixteen healthcare providers from 14 centers across the US with substantial clinical experience in t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f46e55e1b8d537526c32804e742f4286
https://doi.org/10.1016/j.ymgmr.2021.100790
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10
Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic
Autor: Heather Bausell, Janet A. Thomas, Jane Breck, Mina Nguyen-Driver, Vanessa Birardi, Javier Zambrano
Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.5 2017
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 5, Article number: e170015, Published: 16 MAY 2019
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patien
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533424852cd65ae4f6e8f7a8137f3e74
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100403
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