Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.
نویسندگان
چکیده
منابع مشابه
Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.
This review assesses current knowledge of the clinical, genetic, and biochemical features of familial high density lipoprotein (HDL) deficiency syndromes. The focus is on HDL deficiency states occurring in the absence of severe hypertriglyceridemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category include Tangier disease, familial HDL deficiency ...
متن کاملReview Clinical, Biochemical, and Genetic Features in Familial Disorders of High Density Lipoprotein Deficiency
This review assesses current knowledge of the clinical, genetic, and biochemical features of familial high density lipoprotein (HDL) deficiency syndromes. The focus is on HDL deficiency states occurring In the absence of severe hypertrlgiycerldemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category Include Tangier disease, familial HDL deficiency ...
متن کاملTangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults.
I N 1’961 Fredrickson and associates (7,2] described a new disorder of cholesterol and liiloprotcin metabolism in two young siblings. The significant clinical features were hypocholcsterolemia and enlarged tonsils of unusual appearance. One sibling also had hepatosplenomegaly and lymphadenopathy. Foam cells observed in the tonsils and lymph nodes contained large amounts of cholesterol esters. B...
متن کاملTRNT1 deficiency: clinical, biochemical and molecular genetic features
BACKGROUND TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance durin...
متن کاملCholesteryl ester transfer activity in plasma of patients with familial high-density lipoprotein deficiency.
We determined cholesteryl ester transfer activity in whole plasma and in lipoprotein-depleted plasma of normolipidemic subjects and of patients with severe high-density lipoprotein (HDL) deficiency: Tangier disease, lecithin:cholesterol acyltransferase (LCAT) deficiency, and "fish-eye" disease. Transfer rates in plasma were positively correlated (r = 0.950) with rates measured in the absence of...
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ژورنال
عنوان ژورنال: Arteriosclerosis: An Official Journal of the American Heart Association, Inc.
سال: 1984
ISSN: 0276-5047
DOI: 10.1161/01.atv.4.4.303