Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Cary O Harding"'
Autor:
Robert A Kaiser, Daniel F Carlson, Kari L Allen, Dennis A Webster, Caitlin J VanLith, Clara T Nicolas, Lori G Hillin, Yue Yu, Catherine W Kaiser, William R Wahoff, Raymond D Hickey, Adrienne L Watson, Shelley R Winn, Beat Thöny, Douglas R Kern, Cary O Harding, Joseph B Lillegard
Publikováno v:
PLoS ONE, Vol 16, Iss 1, p e0245831 (2021)
Phenylketonuria (PKU) is a metabolic disorder whereby phenylalanine metabolism is deficient due to allelic variations in the gene for phenylalanine hydroxylase (PAH). There is no cure for PKU other than orthotopic liver transplantation, and the stand
Externí odkaz:
https://doaj.org/article/f3e73823f1454455a713448bd5ccf3f7
Autor:
Júlio C. Rocha, Álvaro Hermida, Cheryl J. Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh B. Whitehall, Kirsten K. Ahring, André L. S. Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, François Maillot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)
Abstract Background Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low b
Externí odkaz:
https://doaj.org/article/15082e08da8b449cac44d28e7fa3df9c
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Autor:
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-51 (2024)
Abstract Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary
Externí odkaz:
https://doaj.org/article/2dc70781578846fc93ab92e719142d46
Autor:
Cary O Harding
Publikováno v:
Biologics: Targets & Therapy, Vol 2010, Iss default, Pp 231-236 (2010)
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug Adminis
Externí odkaz:
https://doaj.org/article/8ad2204159d240fd8108f9cd8765077a
Autor:
Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, Cary O Harding, Magdalena Ugarte, Beat Thöny, Lourdes R Desviat
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions. To date, no animal models with these defects are av
Externí odkaz:
https://doaj.org/article/e86914321096423d91d36a6977b828ab
Autor:
Cary O. Harding, Michael Martinez
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100308- (2024)
Externí odkaz:
https://doaj.org/article/dc67c560530242ef8881a0c48647fb37
Autor:
Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)
Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment to keep blood Phe in a safe rang
Externí odkaz:
https://doaj.org/article/6fbed4664755487a94a0d9b21a7cacaa
Autor:
Garen Gaston, Shannon Babcock, Renee Ryals, Gabriela Elizondo, Tiffany DeVine, Dahlia Wafai, William Packwood, Sarah Holden, Jacob Raber, Jonathan R. Lindner, Mark E. Pennesi, Cary O. Harding, Melanie B. Gillingham
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)
Abstract Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder (FAOD) caused by a pathogenic variant, c.1528 G > C, in HADHA encoding the alpha subunit of trifunctional protein (TFPα). Individuals with LCH
Externí odkaz:
https://doaj.org/article/27dc8e84c82a44eea30edebfa30e25b7
Autor:
Júlio César Rocha, Kirsten K. Ahring, Heather Bausell, Deborah A. Bilder, Cary O. Harding, Anita Inwood, Nicola Longo, Ania C. Muntau, André L. Santos Pessoa, Fran Rohr, Serap Sivri, Álvaro Hermida
Publikováno v:
Nutrients, Vol 15, Iss 18, p 3940 (2023)
Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbiditie
Externí odkaz:
https://doaj.org/article/2068e16e9ca341faa64ac060a258f026
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100938- (2022)
Pegvaliase, an injectable form of phenylalanine ammonia lyase, is an enzyme substitution therapy for adults with phenylketonuria (PKU). Experience with pegvaliase during lactation is scarce. Limited evidence suggests that pegvaliase does not pass int
Externí odkaz:
https://doaj.org/article/86267150f7ca4b659d29d53d6683e02a