Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Elaina Jurecki"'
Autor:
Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel RF Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101026- (2024)
Objective: To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico. Methods: This is a retrospective, observational, multicenter, and multinational sur
Externí odkaz:
https://doaj.org/article/b038d5ca4f6549c78195a752e821b2b7
Autor:
Barbara K. Burton, Anne Skalicky, Christoph Baerwald, Deborah A. Bilder, Cary O. Harding, Aaron B. Ilan, Elaina Jurecki, Nicola Longo, David T. Madden, H. Serap Sivri, Gisela Wilcox, Janet Thomas, Kathleen Delaney
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100810- (2021)
Introduction: Current clinical outcome assessments (COAs) are not effectively capturing the complex array of symptoms of adults with phenylketonuria (PKU). This study aimed to identify concepts of interest relevant to adults with PKU. Based on these
Externí odkaz:
https://doaj.org/article/6a03469383fc40518ebc40fcf2d89078
Autor:
Fabíola Vicente, Elaina Jurecki, Daniela Giovannetti, Ana Rita Ferreira, Efigênia Leite, Luciana Giugliani, Catherine Acquadro
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four vers
Externí odkaz:
https://doaj.org/article/92742e29182b4a3cb7dd62442857d47b
Autor:
Lorne Clarke MD, Carolyn Ellaway MBBS, PhD, Helen E. Foster MD, MBBS, Roberto Giugliani MD, PhD, Cyril Goizet MD, PhD, Sarah Goring MSc, Sara Hawley MSc, Elaina Jurecki MS, RD, Zaeem Khan MPH, BSc, Christina Lampe MD, Ken Martin MD, Suzanne McMullen MHA, BSc, John J. Mitchell MD, Fathima Mubarack MSc, MHA, H. Serap Sivri MD, Martha Solano Villarreal MD, PhD, Fiona J. Stewart MB, BS, Anna Tylki-Szymanska MD, PhD, Klane White MD, MSc, Frits Wijburg MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2018)
As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysos
Externí odkaz:
https://doaj.org/article/77e2c55a1f004dacb060921ca52b1269
Autor:
André Luiz Santos Pessoa, Ana Maria Martins, Erlane Ribeiro, Norma Specola, Ana Chiesa, Daniel Vilela, Elaina Jurecki, Debora Mesojedovas, Ida Schwartz
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burd
Autor:
Elaina Jurecki, Nicola Longo, H. Serap Sivri, Deborah A. Bilder, Janet A. Thomas, Christoph Baerwald, Gisela Wilcox, Kathleen A. Delaney, Cary O. Harding, Anne Skalicky, Aaron B. Ilan, Barbara K. Burton, David T. Madden
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100810-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Introduction: Current clinical outcome assessments (COAs) are not effectively capturing the complex array of symptoms of adults with phenylketonuria (PKU). This study aimed to identify concepts of interest relevant to adults with PKU. Based on these
Autor:
Deborah A. Bilder, Gianni Amato, Darren Janzen, Susan E. Waisbren, Mina Nguyen-Driver, David Dimmock, Mitzie Grant, Elaina Jurecki, Georgianne L. Arnold, Nicola Longo, Markus Merilainen
Publikováno v:
American journal of medical genetics. Part A. 188(3)
Pegvaliase is approved to reduce phenylalanine (Phe) levels for people with phenylketonuria (PKU). PRISM-1 (NCT01819727) and PRISM-2 (NCT01889862) data were analyzed to evaluate the relationship between Phe and inattention in adult participants with
Autor:
Richard Rowell, Elaina Jurecki, K. Ahring, Ashok Jha, Frank Rutsch, Roberto T. Zori, Gregory M. Pastores, Barbara K. Burton, Cary O. Harding
Publikováno v:
Molecular Genetics and Metabolism. 128:92-101
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can lead to impaired brain development and function. Standard treatment involves a Phe-restricted
Autor:
B Reineking, L Obernolte, Rani H. Singh, K Ueda, Elaina Jurecki, A Thompson, Dianne M. Frazier, Adrya Stembridge, A M Roberts, Frances Rohr, Steven Yannicelli, C Hussa, Yetsa Osara, Patricia L. Splett
Publikováno v:
Molecular Genetics and Metabolism. 126:341-354
Autor:
Maxim Y. Sheinin, Frances Rohr, K. Perry, Amarilis Sanchez-Valle, Krista Viau, Stephen D Cederbaum, J. Kopesky, Jessica L. Cohen-Pfeffer, Elaina Jurecki
Publikováno v:
Molecular Genetics and Metabolism. 120:190-197
Objective Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence