Article
The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young.
Cardiology in the young - 1 Jun 2009
Shankarappa Ravindranath K, Moorthy Nagaraja, Bhat Seetharama P S, Dwarakaprasad Ramesh, Nanjappa Manjunath C
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia is a monogenic, autosomal dominant disorder caused by mutations in the LDL receptor gene. Familial homozygous hypercholesterolemia results when both the alleles have the defective mutation. It is characterized by cutaneous and tendinous xanthomas, premature corneal arcing, and is associated with an increased risk of coronary arterial disease. It is also seriously...
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