Results 181 to 190 of about 18,706 (235)

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype. [PDF]

Curr Atheroscler Rep
Bourbon M, Alves AC, Chora JR, Hooper AJ, Abifadel M.   +4 more
europepmc   +1 more source

Lipophagy in disease: signaling control, organelle communication, and therapeutic opportunities. [PDF]

Cell Commun Signal
Du YY, Chen XY, Fang Y, Wang Q, Li JP, Guo TT, Lin JN, Fu JY, Xie ML, Hao LJ, Luo S.   +10 more
europepmc   +1 more source

Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics. [PDF]

Ren Fail
Han J, Ma L, Luo H.
europepmc   +1 more source

Lipid homeostasis plays a critical role in inherited and acquired retinal diseases. [PDF]

Commun Biol
Bhattacharyya A, Choudhary V.
europepmc   +1 more source

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Cholesterol Ester Storage Disease

Pediatric Radiology, 1974
D G Shaw, N E France
exaly   +3 more sources

Cholesterol Ester Storage Disease

Journal of Pediatric Gastroenterology and Nutrition, 1988
SummaryCholesterol ester storage disease (CESD) is infrequent in children. Four new cases in two nonrelated families are presented. Acid lipase deficiency in the leukocytes of the patients and reduced activity (50%) in those of parents were demonstrated. Clinical manifestations varied from neonatal cholestasis to asymptomatic hepatomegaly.
Daniel DʼAgostino
exaly   +5 more sources

Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult

Digestive Diseases and Sciences, 2008
Steven Keilin, Hemant Chatrath
exaly   +3 more sources

Cholesterol Ester Storage Disease and Mesenteric Lipodystrophy

American Journal of Clinical Pathology, 1984
Cholesterol ester storage disease is a rare, inherited metabolic disorder of lipid associated with acid cholesteryl ester hydrolase deficiency. Thus far, 15 cases have been reported in the world literature. Reported here is the autopsy study of the oldest patient with this disease.
H P, Dincsoy, D B, Rolfes, C A, McGraw, W K, Schubert   +3 more
openaire   +2 more sources

Hepatocarcinoma in a child with cholesterol ester storage disease

Digestive and Liver Disease, 2008
1 d Diagnosis of cholesterol ester storage disease (CESD) as suggested in a 5-year-old girl by a liver biopsy perormed because of a large hepatomegaly of fortuitous nding, and confirmed by the measurement of lysosomal cid lipase activity in cultured skin fibroblasts.
RIVA S, SPADA M, SCIVERES M, MINERVINI M, CINTORINO D, MAGGIORE, GIUSEPPE, GRIDELLI B.   +6 more
openaire   +3 more sources