Hereditary lipid disorders is a group of disorder that have disturances of lipid metabolism in common. This group includes disorders of adiposie tissue mass and composition as well as dyslipidemias caused by other organs or tissues.
2. |
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3. |
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12. |
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13. |
Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. |
14. |
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16. |
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22. |
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24. |
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25. |
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56. |
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Knight BL et al. (1989) Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. |
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Hobbs HH et al. (1986) Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. |
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Komuro I et al. (1987) The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. |
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67. |
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68. |
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71. |
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72. |
Seftel HC et al. (1980) A host of hypercholesterolaemic homozygotes in South Africa. |
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88. |
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89. |
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94. |
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95. |
Nishina PM et al. (1992) Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. |
96. |
Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia. |
97. |
Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. |
98. |
Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. |
99. |
None (1989) Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. |
100. |
Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. |
101. |
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Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. |
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Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. |
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107. |
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109. |
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110. |
Castellani LW et al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. |
111. |
Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. |
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113. |
Duggirala R et al. (2000) A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans. |
114. |
Marsh L et al. (2000) Treatment of early Parkinson's disease. |
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148. |
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149. |
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150. |
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151. |
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153. |
Armston AE et al. (1988) Diagnosis of familial hypercholesterolaemia using DNA probes for the low-density lipoprotein (LDL) receptor gene. |
154. |
Houlston R et al. (1988) Lipoprotein (a) and coronary heart disease in familial hypercholesterolaemia. |
155. |
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156. |
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157. |
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158. |
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159. |
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160. |
Kita T et al. (1987) Probucol prevents the progression of atherosclerosis in Watanabe heritable hyperlipidemic rabbit, an animal model for familial hypercholesterolemia. |
161. |
Innerarity TL et al. (1987) Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. |
162. |
Brown MS et al. (1986) A receptor-mediated pathway for cholesterol homeostasis. |
163. |
Goldstein JL et al. (1987) Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis. |
164. |
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165. |
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168. |
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174. |
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175. |
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180. |
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181. |
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182. |
None (1983) Portacaval shunt in familial hypercholesterolaemia. |
183. |
Starzl TE et al. (1984) Heart-liver transplantation in a patient with familial hypercholesterolaemia. |
184. |
Brown MS et al. (1981) Regulation of plasma cholesterol by lipoprotein receptors. |
185. |
Miyake Y et al. (1981) Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein. |
186. |
Goldstein B et al. (1981) Interactions of low density lipoprotein receptors with coated pits on human fibroblasts: estimate of the forward rate constant and comparison with the diffusion limit. |
187. |
Magnus P et al. (1981) Genetics of the low density lipoprotein receptor: II. Genetic control of variation in cell membrane low density lipoprotein receptor activity in cultured fibroblasts. |
188. |
Maartmann-Moe K et al. (1981) Genetics of the low density lipoprotein receptor: III. Evidence for multiple normal alleles at the low density lipoprotein receptor locus. |
191. |
Tolleshaug H et al. (1983) The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor. |
192. |
Goldstein JL et al. (1983) Defective lipoprotein receptors and atherosclerosis. Lessons from an animal counterpart of familial hypercholesterolemia. |
193. |
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194. |
Bilheimer DW et al. (1983) Mevinolin and colestipol stimulate receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes. |
195. |
Hornick CA et al. (1983) Secretion of lipoproteins from the liver of normal and Watanabe heritable hyperlipidemic rabbits. |
196. |
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197. |
Mabuchi H et al. (1978) Homozygous familial hypercholesterolemia in Japan. |
198. |
Rose V et al. (1982) Familial hypercholesterolemia: report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling. |
199. |
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200. |
Glueck CJ et al. (1980) Pancreatitis, familial hypertriglyceridemia, and pregnancy. |
201. |
King ME et al. (1980) Plasma-exchange therapy of homozygous familial hypercholesterolemia. |
202. |
Berg K et al. (1978) Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. |
203. |
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204. |
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205. |
Ishibashi S et al. (1994) Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. |
206. |
Betteridge DJ et al. () Compactin inhibits cholesterol synthesis in lymphocytes and intestinal mucosa from patients with familial hypercholesterolaemia. |
207. |
Deckelbaum RJ et al. (1977) Failure of complete bile diversion and oral bile acid therapy in the treatment of homozygous familial hypercholesterolemia. |
208. |
Ishibashi S et al. (1993) Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. |
209. |
Tonstad S et al. (1996) Efficacy and safety of cholestyramine therapy in peripubertal and prepubertal children with familial hypercholesterolemia. |
210. |
Summers RM et al. (1998) Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. |
211. |
Berg K et al. (1976) Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism. |
212. |
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213. |
OMIM.ORG article Omim 605019 |