Zobrazeno 1 - 10
of 300
pro vyhledávání: '"Barbara K. Burton"'
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:
Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic dis
Externí odkaz:
https://doaj.org/article/05dd1c85770a46b4be285c87c0320601
Autor:
Katherine H. Kim, Ankit K. Desai, Erika R. Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100981- (2023)
A late-onset Pompe disease patient developed high sustained antibody titers (HSAT) of ≥51,200 after 11+ years on alglucosidase alfa and previous tolerance. There was a corresponding worsening of motor function and rise in urinary glucose tetrasacch
Externí odkaz:
https://doaj.org/article/a4e5cd8daf564e5ba10738d304447e3f
Autor:
Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) idursulfase can stabi
Externí odkaz:
https://doaj.org/article/cb2d320f4d274cb7ab2b18683b97cf09
Autor:
Melissa Lah, Keziah Cook, Dumingu Aparna Gomes, Stephanie Liu, Nadia Tabatabaeepour, Noam Kirson, Er Chen, Kristin Lindstrom, Kaleigh Bulloch Whitehall, Joost Van Backle, Barbara K. Burton
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100918- (2022)
Background: Phenylketonuria (PKU) is an inborn metabolic error characterized by a deficiency of the enzyme required for the metabolism of phenylalanine, an essential amino acid found in most protein-containing foods. Pegvaliase (Palynziq®) is an enz
Externí odkaz:
https://doaj.org/article/4e906c81b8f1463b8279fc3168fcbaaf
Autor:
Yulan Qi, Gina Patel, Joshua Henshaw, Soumi Gupta, Joy Olbertz, Kevin Larimore, Cary O. Harding, Markus Merilainen, Roberto Zori, Nicola Longo, Barbara K. Burton, Mingjin Li, Zhonghua Gu, Stephen J. Zoog, Haoling H. Weng, Becky Schweighardt
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 5, Pp 1894-1905 (2021)
Abstract Phenylketonuria (PKU), a deficiency in the activity of the enzyme phenylalanine hydroxylase, leads to toxic levels of phenylalanine (Phe) in the blood and brain. Pegvaliase (recombinant Anabaena variabilis phenylalanine ammonia lyase conjuga
Externí odkaz:
https://doaj.org/article/6dddc3ccb3034bcbaa7d7af4647fea1b
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100905- (2022)
In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007. Historically, dietary managem
Externí odkaz:
https://doaj.org/article/97304287bfbb43ccb35c7420da338278
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:
Yujia Zhou, MD, Michael J. Shapiro, MD, Barbara K. Burton, MD, Marilyn B. Mets, MD, Sudhi P. Kurup, MD
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 23, Iss , Pp 101151- (2021)
Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. Obs
Externí odkaz:
https://doaj.org/article/893eef6798b64aa386781874a0835c29
Autor:
Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Barbara K. Burton, Khaja Basheeruddin, Hsuan-Chieh Liao, Maria Fuller, Michael H. Gelb
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 9 (2022)
All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out via the measurement of α-iduronidase (IDUA) and iduronate-2-sulfatase (IDS) enzymatic activity, respectively, in dried blood spots (DBS). The majority
Externí odkaz:
https://doaj.org/article/73a49095ad8648849ccf8583559c96f4