Zobrazeno 1 - 10
of 814
pro vyhledávání: '"R, Winn"'
Autor:
Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Sean Nygaard, Taylor L. Mighell, Markus Grompe, Cary O. Harding
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 234-245 (2020)
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care
Externí odkaz:
https://doaj.org/article/00c24d618a90462583b0b34d2cc5a04d
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
Publikováno v:
Environmental Health Insights, Vol 13 (2019)
Background: A limited number of potentially hazardous trace elements were quantified in the aquatic environment near the world’s second largest coal-fired power plant (CFPP) and the coal combustion residual (CCR) disposition sites in Central Taiwan
Externí odkaz:
https://doaj.org/article/06cabca69d9e43fdb7b6242738550736
Publikováno v:
Beilstein Journal of Organic Chemistry, Vol 10, Iss 1, Pp 746-751 (2014)
A new approach to the anticancer drug Velcade was developed by performing asymmetric borylation of an imine anchored with a chiral N-phosphinyl auxiliary. Throughout the 7-step synthesis, especially in the imine’s synthesis and in the asymmetric bo
Externí odkaz:
https://doaj.org/article/6c98738ff0b34e6da2d6476cf30aab09
Publikováno v:
British Journal of Dermatology. 185:861-863
Birt-Hogg-Dube (BHD) syndrome is characterised by a triad of benign skin tumours, pulmonary cysts with an attendant risk of pneumothorax, and renal cancer. BHD is caused by heterozygous pathogenic variants in folliculin (FLCN), a tumour suppressor ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8837dcac5739a082c86157bde8312962
https://doi.org/10.1111/bjd.20521
https://doi.org/10.1111/bjd.20521
Autor:
Bruce A. Barshop, Benjamin Chan, Cary O. Harding, Shelley R. Winn, Jon A. Gangoiti, Melanie B. Gillingham, Garen Gaston
Publikováno v:
Journal of Inherited Metabolic Disease. 43:1232-1242
Anaplerotic odd-chain fatty acid supplementation has been suggested as an approach to replenish citric acid cycle intermediate (CACi) pools and facilitate adenosine triphosphate (ATP) production in subjects with long-chain fatty acid oxidation disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6e96df5d22e4c971e5566acfad5d01
https://doi.org/10.1002/jimd.12284
https://doi.org/10.1002/jimd.12284
Autor:
Markus Grompe, Sandra Dudley, Shelley R. Winn, Sean Nygaard, Cary O. Harding, Taylor L. Mighell, Daelyn Y. Richards
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 234-245 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a8e78b4be5cda71eea19dce9314487
http://www.sciencedirect.com/science/article/pii/S2329050119301500
http://www.sciencedirect.com/science/article/pii/S2329050119301500
Autor:
Shelley R. Winn, Sandra Dudley, Tanja Scherer, Nicole Rimann, Beat Thöny, Sydney Boutros, Destine Krenik, Jacob Raber, Cary O. Harding
Publikováno v:
Mol Genet Metab
Existing phenylalanine hydroxylase (PAH)-deficient mice strains are useful models of untreated or late-treated human phenylketonuria (PKU), as most contemporary therapies can only be initiated after weaning and the pups have already suffered irrevers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5e523aa04e4b26131efe6e08800bde
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