Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Cholesteryl Ester Storage Disease[original query] |
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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 |
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 |
Estimation of the prevalence of cholesteryl ester storage disorder 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, Wa Li Kah, Humphries Steve E, McDowell I |
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. Journal of hepatology 2018 10 70 (1): 142-150. Carter Anna, Brackley Simon Mark, Gao Jiali, Mann Jake Pet |
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