Zobrazeno 1 - 10 of 542 pro vyhledávání: '"Lynette D. Fairbanks"'
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Akademický článek
Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
Autor: Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyp
Externí odkaz: https://doaj.org/article/ff16c313e79a4724aba91300ea38e186
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2
Refractory gout – does it exist?
Autor: Werner Löffler, Lynette D. Fairbanks
Publikováno v: Nucleosides, Nucleotides & Nucleic Acids. 39:1410-1423
Refractory gout (RG) has been increasingly recognized to be a major problem in clinical care. Patients diagnosed with RG have been assumed to be non-adherent, or under-dosed, to the greater part. In a minority, pathophysiological mechanisms have been
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6706ac4a784717583dd0ae27a9304858
https://doi.org/10.1080/15257770.2020.1746804
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3
Akademický článek
Pleural fluid adenosine deaminase (pfADA) in the diagnosis of tuberculous effusions in a low incidence population.
Autor: David T Arnold, Rahul Bhatnagar, Lynette D Fairbanks, Natalie Zahan-Evans, Amelia O Clive, Anna J Morley, Andrew R L Medford, Nicholas A Maskell
Publikováno v: PLoS ONE, Vol 10, Iss 2, p e0113047 (2015)
INTRODUCTION:Previous studies have assessed the diagnostic ability of pleural fluid adenosine deaminase (pfADA) in detecting tuberculous pleural effusions, with good specificity and sensitivity reported. However, in North Western Europe pfADA is not
Externí odkaz: https://doaj.org/article/b393031038a94756bb0e60479a2aec1b
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4
Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
Autor: Adriana Becerra, Lynette D. Fairbanks, Norberto Guelbert, Emilia Escuredo, Hyder A. Jinnah, Raquel Dodelson de Kremer, Laura E. Laróvere
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200027, Published: 17 MAR 2021
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddec96d1f21b024c29e13c06cffa10d0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304&tlng=en
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5
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
Autor: Claudia Kemper, Doreen Dobritzsch, Jeroen Roelofsen, Alexandre N. Datta, Gabor Szinnai, John A. Duley, Nina Lenherr, Nicolas Gürtler, Isabel Filges, John Christodoulou, Erin E. West, Lynette D. Fairbanks, André B.P. van Kuilenburg, Martina Huemer
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100709-(2021)
Molecular genetics and metabolism reports, 26:100709. Elsevier BV
Molecular Genetics and Metabolism Reports
Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aeca935c1a124180f10cfcc4ec01288
https://doi.org/10.5167/uzh-213638
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6
Quantification of Plasma and Urine Thymidine and 2’-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy
Autor: Max Hecht, Karin Kipper, Sema Kalkan Uçar, Emma L. Blakely, Natalicia J. Antunes, Andrew M. Schaefer, Michelle Levene, Bridget E. Bax, Lynette D. Fairbanks
Publikováno v: Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 788
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3, p 788 (2020)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2'-deoxyuridine. Erythrocy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5fb98be9cef84bd253ed9ce29cf2e9
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7
Disorders of purine and pyrimidine metabolism
Autor: Richard W.E. Watts, Lynette D. Fairbanks, Anthony M. Marinaki
Publikováno v: Oxford Textbook of Medicine
Disorders of purine and pyrimidine metabolism are due to abnormalities in the biosynthesis, interconversion, and degradation of the purines—adenine and guanine—and of the pyrimidines—cytosine, thymine, and uracil. The purine nucleotides, their
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::02490c958612373ffc30cce517d3e105
https://doi.org/10.1093/med/9780198746690.003.0230
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9
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
Autor: Neluwa Liyanage Ruwan Indika, K. L. S. P. K. M. Jayasena, Pyara Ratnayake, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Dinesha Maduri Vidanapathirana, Blanka Stiburkova, Vindya Nandani Gunasekara, Lynette D. Fairbanks, Hewa Warawitage Dilanthi
Publikováno v: BMC Research Notes, Vol 10, Iss 1, Pp 1-6 (2017)
BMC Research Notes
Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4410f3c0c7c65d3432b9bf163a4c0165
http://link.springer.com/article/10.1186/s13104-017-2795-2
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10
Safety and efficacy of erythrocyte encapsulated thymidine phosphorylase in mitochondrial neurogastrointestinal encephalomyopathy
Autor: Andrew D. Mackinnon, Niranjanan Nirmalananthan, Mauro Scarpelli, Joanna Poulton, Nicholas Moran, Bridget E. Bax, Dario Pacitti, Murray D. Bain, Hanna Mandel, Lynette D. Fairbanks, Michelle Levene, Massimiliano Filosto
Publikováno v: Journal of Clinical Medicine
Volume 8
Issue 4
Journal of Clinical Medicine, Vol 8, Iss 4, p 457 (2019)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (TYMP) gene, encoding for the enzyme thymidin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b528e06a3e0b53191cd9d9da1f5174f
https://ora.ox.ac.uk/objects/uuid:a725ef35-9563-41a5-a018-b5025e56a4e7
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