HuGE Literature Finder
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Records 1-7
Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia.
Arquivos brasileiros de cardiologia 2018 Feb 110 (2): 119-123. Lorenzo Andrea De, Silva Juliana Duarte Lopes da, James Cinthia E, Pereira Alexandre C, Moreira Annie Seixas Bel |
ANNALS EXPRESS: Estimation of the prevalence of Cholesteryl Ester Storage Disorder (CESD) in a cohort of patients with clinical features of Familial Hypercholesterolaemia.
Annals of clinical biochemistry 2018 Jan 4563218793165. Ashfield-Watt Pauline, Haralambos Kate, Edwards Rhiannon, Townsend Delyth, Gingell Rob, Li Ka Wa, Humphries Steve, McDowell I |
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
Journal of the American College of Cardiology 2017 Oct 70 (14): 1732-1740. Amor-Salamanca Almudena, Castillo Sergio, Gonzalez-Vioque Emiliano, Dominguez Fernando, Quintana Lucía, Lluís-Ganella Carla, Escudier Juan Manuel, Ortega Javier, Lara-Pezzi Enrique, Alonso-Pulpon Luis, Garcia-Pavia Pab |
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Atherosclerosis 2016 08 251 263-265. Sjouke Barbara, Defesche Joep C, de Randamie Janine S E, Wiegman Albert, Fouchier Sigrid W, Hovingh G Ke |
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Hepatology (Baltimore, Md.) 2013 Sep 58 (3): 958-65. Scott Stuart A, Liu Benny, Nazarenko Irina, Martis Suparna, Kozlitina Julia, Yang Yao, Ramirez Charina, Kasai Yumi, Hyatt Tommy, Peter Inga, Desnick Robert |
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease.
Journal of hepatology 2013 Feb . Bernstein DL, Hülkova H, Bialer MG, Desnick RJ |
Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
Obesity (Silver Spring, Md.) 2012 Oct 20 (10): 2075-82. Guénard Frédéric, Houde Alain, Bouchard Luigi, Tchernof André, Deshaies Yves, Biron Simon, Lescelleur Odette, Biertho Laurent, Marceau Simon, Pérusse Louis, Vohl Marie-Clau |
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