disease

(redirected from Cholesteryl ester storage disease)
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Synonyms for disease

Synonyms for disease

a pathological condition of mind or body

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References in periodicals archive ?
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease. J Lipid Res 1995; 36: 241-50.
(4.) Scott SA, Liu B, Nazarenko I, et al Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c 894G>A) in various racial and ethnic groups Hepatology 2013,58 958-65.
Hyanek et al., "Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer," Journal of Hepatology, vol.
(4) Onset in older patients has been named cholesteryl ester storage disease. (4)
The two major phenotypes of this condition are a rapidly progressive form in infancy (formerly known as Wolman disease) and a later-onset progressive form in children and adults (formerly known as cholesteryl ester storage disease, CESD).