Zobrazeno 1 - 10
of 320
pro vyhledávání: '"LCAT deficiency"'
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 67, Iss 1, Pp 3-18 (2023)
ABSTRACT In individuals with very low high-density lipoprotein (HDL-C) cholesterol, such as Tangier disease, LCAT deficiency, and familial hypoalphalipoproteinemia, there is an increased risk of premature atherosclerosis. However, analyzes based on c
Externí odkaz:
https://doaj.org/article/02e086e8e4a246ff97eb82f5a02fec79
Autor:
Erwin Garcia, Irina Shalaurova, Steven P. Matyus, Lita A. Freeman, Edward B. Neufeld, Maureen L. Sampson, Rafael Zubirán, Anna Wolska, Alan T. Remaley, James D. Otvos, Margery A. Connelly
Publikováno v:
Molecules, Vol 29, Iss 3, p 564 (2024)
Lipoprotein X (LP-X) is an abnormal cholesterol-rich lipoprotein particle that accumulates in patients with cholestatic liver disease and familial lecithin–cholesterol acyltransferase deficiency (FLD). Because there are no high-throughput diagnosti
Externí odkaz:
https://doaj.org/article/7b4075c84b5d4606bf457aaea0b6e7e5
Autor:
Margareta Fistrek Prlic, Marijana Coric, Laura Calabresi, Chiara Pavanello, Lorena Mosca, Ugo Cavallari, Ivana Vukovic Brinar, Sandra Karanovic, Mario Laganovic, Bojan Jelakovic
Publikováno v:
Atherosclerosis Plus, Vol 49, Iss , Pp 28-31 (2022)
Background and aims: We report the first two cases of familial lecithin:cholesterol acyltransferase (LCAT) deficiency in Croatia with classical clinical and biochemical features. Patients and methods: A 30-year-old man with nephrotic syndrome, cornea
Externí odkaz:
https://doaj.org/article/0af6f28a1d114651aac3088ffc570ee5
Autor:
Masayuki Aso, Tokuo T. Yamamoto, Masayuki Kuroda, Jun Wada, Yoshitaka Kubota, Ko Ishikawa, Yoshiro Maezawa, Naoya Teramoto, Ayako Tawada, Sakiyo Asada, Yasuyuki Aoyagi, Mika Kirinashizawa, Akinobu Onitake, Yuta Matsuura, Kunio Yasunaga, Shun-ichi Konno, Katsuaki Nishino, Misato Yamamoto, Junko Miyoshi, Norihiko Kobayashi, Masami Tanio, Takayuki Ikeuchi, Hidetoshi Igari, Nobuyuki Mitsukawa, Hideki Hanaoka, Koutaro Yokote, Yasushi Saito
Publikováno v:
Heliyon, Vol 8, Iss 11, Pp e11271- (2022)
Background: Familial lecithin: cholesterol acyltransferase (LCAT) deficiency (FLD) is a severe inherited disease without effective treatment. Patients with FLD develop severe low HDL, corneal opacity, hemolytic anemia, and renal injury. Objective: We
Externí odkaz:
https://doaj.org/article/d81d0aaee5b947aba70e26e8afc408b1
Akademický článek
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Autor:
Monica Gomaraschi, Marta Turri, Arianna Strazzella, Marie Lhomme, Chiara Pavanello, Wilfried Le Goff, Anatol Kontush, Laura Calabresi, Alice Ossoli
Publikováno v:
Antioxidants, Vol 12, Iss 8, p 1498 (2023)
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disease caused by the loss of function mutations in the LCAT gene. LCAT deficiency is characterized by an abnormal lipoprotein profile with severe reduction in pl
Externí odkaz:
https://doaj.org/article/c16b3f1222f641988ef0199d86d7d1c1
Autor:
Roopa Mehta, Daniel Elías-López, Alexandro J. Martagón, Oscar A Pérez-Méndez, Maria Luisa Ordóñez Sánchez, Yayoi Segura, Maria Teresa Tusié, Carlos A. Aguilar-Salinas
Publikováno v:
Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-18 (2021)
Abstract 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
Externí odkaz:
https://doaj.org/article/e7975c1e05f647299d4cd386334baa52
Autor:
Chiara Pavanello, Alice Ossoli, Arianna Strazzella, Patrizia Risè, Fabrizio Veglia, Marie Lhomme, Paolo Parini, Laura Calabresi
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 7, Pp 100232- (2022)
Abstract: Mutations in the LCAT gene cause familial LCAT deficiency (Online Mendelian Inheritance in Man ID: #245900), a very rare metabolic disorder. LCAT is the only enzyme able to esterify cholesterol in plasma, whereas sterol O-acyltransferases 1
Externí odkaz:
https://doaj.org/article/9c67aa914df84df3949ccfe0a3e6fe43
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