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Hoeg JM (1994)
Familial hypercholesterolemia: what the zebra can teach us about the horseJAMA, 271
Brown MS Goldstein JL (1989)
The Metabolic Basis of Inherited Disease
Grossman M Wilson JM (1992)
Hepatocyte-directed gene transfer in vivo leads to transient improvement of hypercholesterolemia in low density lipoprotein receptor–deficient rabbitsJ Biol Chem, 267
Schaefer EJ Sprecher DL (1984)
Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patientsAm J Cardiol, 54
Black DM Stein EA (1990)
Inborn Metabolic Diseases
Abstract THE CUTANEOUS lesions pictured in Figure 1 through Figure 3 began to appear in the intergluteal cleft area when this child was 2 years of age. Denouement and Discussion Homozygous Familial Hypercholesterolemia Homozygous familial hypercholesterolemia is a rare disorder of lipoprotein metabolism occurring in approximately one child in 1 million. It is a monogenic disorder at the low-density lipoprotein (LDL) receptor gene locus, but the phenotypic expression is variable because of at least 20 allelic mutations in the receptor gene that impair the receptor-mediated uptake of LDL from the circulation.1 Low-density lipoprotein receptor formation may be disrupted by mutations in four areas: synthesis, transport, binding, and clustering.2 Lipoprotein particles transport lipids, vitamins, and other hydrophobic substances in the aqueous References 1. Hoeg JM. Familial hypercholesterolemia: what the zebra can teach us about the horse . JAMA . 1994;271:543-546.Crossref 2. Goldstein JL, Brown MS. Familial hypercholesterolemia . In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1215-1220. 3. Sprecher DL, Schaefer EJ, Kent KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients . Am J Cardiol . 1984;54:20-30.Crossref 4. Stein EA, Black DM. Hyperlipoproteinemias . In: Fernandes J, Tada K, Saudubray JM, eds. Inborn Metabolic Diseases . Heidelberg, Germany: Appl Wemding; 1990:347-380. 5. Wilson JM, Grossman M, Wu CH, Chowdhury NE, Wu GY, Chowdhury JR. Hepatocyte-directed gene transfer in vivo leads to transient improvement of hypercholesterolemia in low density lipoprotein receptor–deficient rabbits . J Biol Chem . 1992;267:963-967.
Archives of Pediatrics & Adolescent Medicine – American Medical Association
Published: Jun 1, 1995
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