Zobrazeno 1 - 10
of 292
pro vyhledávání: '"Fish-Eye Disease"'
Autor:
Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 23-32 (2024)
Sebastian Ciro Acosta,1 Lorena Díaz-Ordóñez,1,2 Juan David Gutierrez-Medina,1,3 Yisther Katherine Silva-Cuero,1,2 Luis Guillermo Arango-Vélez,4,5 Andrés Octavio García-Trujillo,4,5 Harry Pachajoa1,2,6 1Centro de Investigaciones en Anomalias Con
Externí odkaz:
https://doaj.org/article/7478282521b644af9444988cd5740ed4
Autor:
Cecilia Vitali, Archna Bajaj, Christina Nguyen, Jill Schnall, Jinbo Chen, Kostas Stylianou, Daniel J. Rader, Marina Cuchel
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 3, Pp 100169- (2022)
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). No treatme
Externí odkaz:
https://doaj.org/article/2ba2a876ac9c485281fe0017cc041977
Autor:
Lita A. Freeman, Robert D. Shamburek, Maureen L. Sampson, Edward B. Neufeld, Masaki Sato, Sotirios K. Karathanasis, Alan T. Remaley
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 5, Pp 1050-1057 (2019)
Familial LCAT deficiency (FLD) patients accumulate lipoprotein-X (LP-X), an abnormal nephrotoxic lipoprotein enriched in free cholesterol (FC). The low neutral lipid content of LP-X limits the ability to detect it after separation by lipoprotein elec
Externí odkaz:
https://doaj.org/article/334e3aea938c4fc9b998b97c64d7fd77
Akademický článek
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Publikováno v:
Expert Review of Ophthalmology, 17, 221-225. Taylor & Francis Group
Expert Review of Opthalmology, 17(3), 221-225
van de Wouw, D S, de Jong, B, van der Meulen, I J E & van den Berg, T J T P 2022, ' Straylight in fish-eye disease : visual quality and angular dependence of straylight ', Expert Review of Opthalmology, vol. 17, no. 3, pp. 221-225 . https://doi.org/10.1080/17469899.2022.2098717
Expert Review of Ophthalmology, 17(3), 221-225. Taylor and Francis Ltd.
Expert Review of Opthalmology, 17(3), 221-225
van de Wouw, D S, de Jong, B, van der Meulen, I J E & van den Berg, T J T P 2022, ' Straylight in fish-eye disease : visual quality and angular dependence of straylight ', Expert Review of Opthalmology, vol. 17, no. 3, pp. 221-225 . https://doi.org/10.1080/17469899.2022.2098717
Expert Review of Ophthalmology, 17(3), 221-225. Taylor and Francis Ltd.
Aim: To quantify visual complaints by determining straylight values, to investigate the angular dependency of straylight, and to examine the use of straylight for clinical decision making in fish-eye disease (FED) patients. Research design and method
Akademický článek
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Autor:
Itziar Lamiquiz-Moneo, Fernando Civeira, Diego Gómez-Coronado, Francisco Blanco-Vaca, Hilda Mercedes Villafuerte-Ledesma, Miriam Gil, Nuria Amigó, Rocío Mateo-Gallego, Ana Cenarro
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 11, p 1860 (2019)
Renal complications are the major cause of morbidity and mortality in patients with familial lecithin−cholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings—only one of whom developed renal disease
Externí odkaz:
https://doaj.org/article/3e918121fc78440db162bac97efd6102
Autor:
Maria Teresa Tusié, Carlos A. Aguilar-Salinas, Daniel Elías-López, Maria Luisa Ordóñez Sánchez, Yayoi Segura, Roopa Mehta, Alexandro J. Martagón, Oscar Pérez-Méndez
Publikováno v:
Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-18 (2021)
Lipids in Health and Disease
Lipids in Health and Disease
Background LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT d
Autor:
Elvira Salvador-Ruperez, Ricardo Gonzalez-Tarancon, Nuria Goñi Ros, José Puzo Foncillas, Martín Puzo Bayod, Paula Sienes Bailo
Publikováno v:
Acta clinica Belgica. 77(6)
BACKGROUND Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare ge
Publikováno v:
Casteleijn, M G, Parkkila, P, Viitala, T & Koivuniemi, A 2018, ' Interaction of lecithin : Cholesterol acyltransferase with lipid surfaces and apolipoprotein A-I-derived peptides [S] ', Journal of Lipid Research, vol. 59, no. 4, pp. 670-683 . https://doi.org/10.1194/jlr.M082685
Journal of Lipid Research, Vol 59, Iss 4, Pp 670-683 (2018)
Journal of Lipid Research
Journal of Lipid Research, Vol 59, Iss 4, Pp 670-683 (2018)
Journal of Lipid Research
LCAT is an enzyme responsible for the formation of cholesteryl esters from unesterified cholesterol (UC) and phospholipid (PL) molecules in HDL particles. However, it is poorly understood how LCAT interacts with lipoproteins and how apoA-I activates