Der Gruppe der erblichen Fettstoffwechselerkrankungen umfasst Störungen des Fettgewebes wie auch Dyslipidämien, deren Ursache in anderen Organen oder Geweben zu suchen ist.
2. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. |
3. |
Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. |
4. |
Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes. |
6. |
Cuchel M et al. (2007) Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. |
7. |
Pajukanta P et al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). |
8. |
Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II. |
10. |
Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. |
11. |
Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. |
12. |
Kao JT et al. (2003) A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. |
13. |
Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. |
14. |
Hunt SC et al. (2000) Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. |
15. |
Abifadel M et al. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. |
16. |
Timms KM et al. (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. |
17. |
Cohen J et al. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. |
18. |
Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. |
19. |
Zuliani G et al. (1999) Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. |
20. |
Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. |
21. |
Norman D et al. (1999) Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. |
22. |
Ciccarese M et al. (2000) A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26. |
24. |
Garcia CK et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. |
25. |
Al-Kateb H et al. (2002) Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. |
26. |
Canizales-Quinteros S et al. (2005) A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. |
27. |
Jones C et al. (2007) Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. |
28. |
Zuliani G et al. (1995) Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. |
29. |
Rallidis L et al. (1996) Aortic stenosis in homozygous familial hypercholesterolaemia. |
32. |
Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. |
33. |
Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families. |
34. |
Heaney AP et al. (1999) Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. |
35. |
BOGGS JD et al. (1957) The genetic mechanism of idiopathic hyperlipemia. |
36. |
HAVEL RJ et al. (1960) Idiopathic hyperlipemia: metabolic studies in an affected family. |
39. |
Sternowsky HJ et al. (1977) Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings. |
40. |
Emi M et al. (1990) Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. |
41. |
None (1937) Splenomegaly with Lipaemia. |
42. |
Auwerx JH et al. (1989) Defective enzyme protein in lipoprotein lipase deficiency. |
43. |
None (1989) Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases. |
44. |
None (1987) An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. |
45. |
Nevin NC et al. (1968) Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. |
46. |
Breckenridge WC et al. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. |
47. |
Wessler S et al. (1969) Classification and management of familial hyperlipoproteinemia. |
48. |
Hoeg JM et al. (1983) Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. |
49. |
Brunzell JD et al. (1980) Heterogeneity of primary lipoprotein lipase deficiency. |
50. |
Cantin B et al. (1995) Hemolysis in primary lipoprotein lipase deficiency. |
51. |
Feoli-Fonseca JC et al. (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. |
52. |
None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). |
53. |
Hobbs HH et al. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. |
54. |
Frank SL et al. (1989) Linkage of the mouse LDL receptor gene on chromosome 9. |
55. |
Miyake Y et al. (1989) Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. |
56. |
Brink PA et al. (1987) Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect. |
57. |
Steyn K et al. (1989) The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. |
58. |
Knight BL et al. (1989) Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. |
59. |
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. |
60. |
Komuro I et al. (1987) The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. |
61. |
Kotze MJ et al. (1987) Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. |
63. |
Lehrman MA et al. (1985) Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. |
64. |
Davis CG et al. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. |
66. |
Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. |
67. |
Kingsley DM et al. (1984) Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity. |
68. |
Torrington M et al. (1981) Familial hypercholesterolaemia and church affiliation. |
69. |
Tolleshaug H et al. (1982) Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. |
70. |
Francke U et al. (1984) Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. |
71. |
Allen JM et al. (1980) Cadiovascular complications of homozygous familial hypercholesterolaemia. |
72. |
Seftel HC et al. (1980) A host of hypercholesterolaemic homozygotes in South Africa. |
73. |
Grossman M et al. (1994) Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. |
74. |
Feussner G et al. (1996) Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. |
75. |
Vergopoulos A et al. () A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. |
76. |
Defesche JC et al. (1998) Molecular epidemiology of familial hypercholesterolaemia. |
77. |
Ekström U et al. (1999) An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). |
78. |
Knoblauch H et al. (2000) A cholesterol-lowering gene maps to chromosome 13q. |
80. |
Vergotine J et al. (2001) Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. |
81. |
None (1964) THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. |
83. |
Bourbon M et al. (2007) A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. |
84. |
Defesche JC et al. (2008) Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. |
85. |
Kulseth MA et al. (2010) Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site. |
86. |
Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. |
88. |
Aouizerat BE et al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. |
89. |
Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. |
90. |
Bodnar JS et al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1. |
91. |
Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia. |
92. |
Pajukanta P et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q. |
93. |
van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. |
94. |
Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24. |
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. |
Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression. |
102. |
Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders. |
103. |
Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. |
104. |
Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families. |
105. |
Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. |
106. |
Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia. |
107. |
Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. |
108. |
Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. |
109. |
Pajukanta P et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. |
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. |
112. |
Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. |
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. |
115. |
Brown MS et al. (1975) Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations. |
116. |
Umans-Eckenhausen MA et al. (2001) Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. |
117. |
Hasty AH et al. (2001) Severe hypercholesterolemia, hypertriglyceridemia, and atherosclerosis in mice lacking both leptin and the low density lipoprotein receptor. |
118. |
Brorholt-Petersen JU et al. (2001) LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy. |
120. |
Brunzell JD et al. (1975) Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities. |
122. |
Buja LM et al. (1979) Cellular pathology of homozygous familial hypercholesterolemia. |
123. |
Wen XY et al. (2003) Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. |
124. |
Deramo VA et al. (2003) Ischemic optic neuropathy as the first manifestation of elevated cholesterol levels in young patients. |
125. |
Hobbs HH et al. (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. |
126. |
EPSTEIN FH et al. (1959) Familial hypercholesterolemia, xanthomatosis and coronary heart disease. |
127. |
Wilson JM et al. (1992) Ex vivo gene therapy of familial hypercholesterolemia. |
128. |
Beekman M et al. (2003) Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population. |
129. |
Hedman M et al. (2005) Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study. |
130. |
Newson AJ et al. (2005) Cascade testing in familial hypercholesterolaemia: how should family members be contacted? |
131. |
None (2005) Cascade screening: whose information is it anyway? |
132. |
Goldstein JL et al. (1975) Familial hypercholesterolemia. A genetic regulatory defect in cholesterol metabolism. |
133. |
Chowdhury JR et al. (1991) Long-term improvement of hypercholesterolemia after ex vivo gene therapy in LDLR-deficient rabbits. |
134. |
Brown MS et al. (1976) Receptor-mediated control of cholesterol metabolism. |
135. |
None (1976) Inheritance of xanthomatosis and hyper-beta-lipoproteinaemia. A study of 7 large kindreds. |
137. |
Varret M et al. (2008) Genetic heterogeneity of autosomal dominant hypercholesterolemia. |
138. |
Brown MS et al. (1976) Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein. |
139. |
Goldstein JL et al. (1977) Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic. |
140. |
Bilheimer DW et al. (1978) Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia. |
141. |
Johansen CT et al. (2010) Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. |
142. |
Goldstein JL et al. (1978) Familial hypercholesterolemia: pathogenesis of a receptor disease. |
143. |
Berger GM et al. (1978) Continuous flow plasma exchange in the treatment of homozygous familial hypercholesterolemia. |
144. |
None (1979) A major locus for hyper-beta-lipoproteinemia with xanthomatosis. |
145. |
Goldstein JL et al. (1979) The LDL receptor locus and the genetics of familial hypercholesterolemia. |
146. |
Hummel M et al. (1990) Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. |
147. |
Goldstein JL et al. (1975) Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor. |
148. |
Leitersdorf E et al. (1989) Polymorphic DNA haplotypes at the LDL receptor locus. |
149. |
Schuster H et al. (1989) Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia. |
150. |
Edwards JA et al. (1978) Hyperlipidemia in a Lebanese community: difficulties in definition, diagnosis and decision on when to treat. |
151. |
Humphries SE et al. (1985) A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis. |
152. |
Leppert MF et al. (1986) A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease. |
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. |
Yamamoto T et al. (1986) Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. |
156. |
Scanu AM et al. (1988) Genetically determined hypercholesterolemia in a rhesus monkey family due to a deficiency of the LDL receptor. |
157. |
Hoeg JM et al. (1987) 3-Hydroxy-3-methylglutaryl--coenzyme A reductase inhibitors in the treatment of hypercholesterolemia. |
158. |
Hofmann SL et al. (1988) Overexpression of low density lipoprotein (LDL) receptor eliminates LDL from plasma in transgenic mice. |
159. |
Funahashi T et al. (1988) Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia. |
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. |
Cuthbert JA et al. (1986) Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes. |
165. |
Levy RA et al. (1986) Diversity in expression of heterozygous familial hypercholesterolemia. Characterization of a unique kindred. |
166. |
Mabuchi H et al. (1986) Coronary ectasia in a homozygous patient with familial hypercholesterolemia. |
167. |
Nora JJ et al. (1985) Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes. |
168. |
Bilheimer DW et al. (1985) Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia. |
169. |
Cai HJ et al. (1985) Homozygous familial hypercholesterolemic patients in China. |
170. |
Ott J et al. (1974) Linkage studies in a large kindred with familial hypercholesterolemia. |
172. |
Kwiterovich PO et al. (1974) Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. |
174. |
Goldstein JL et al. (1975) Hyperlipidemia in coronary heart disease: a biochemical genetic approach. |
175. |
Schrott HG et al. (1972) Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism. |
176. |
Higgins MJ et al. (1975) A new type of familial hypercholesterolaemia. |
177. |
Fredrickson DS et al. (1967) Fat transport in lipoproteins--an integrated approach to mechanisms and disorders. |
178. |
None (1969) Plasma lipoproteins: micellar models and mutants. |
180. |
Hould F et al. (1969) Essential familial hypercholesterolemia with xanthomatosis. |
181. |
Namboodiri KK et al. (1977) Segregation and linkage analyses of a large pedigree with hypertriglyceridemia. |
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. |
McNamara DJ et al. (1983) Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes. |
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. |
Mabuchi H et al. (1983) Reduction of serum cholesterol in heterozygous patients with familial hypercholesterolemia. Additive effects of compactin and cholestyramine. |
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. |
Mabuchi H et al. (1981) Effect of an inhibitor of 3-hydroxy-3-methyglutaryl coenzyme A reductase on serum lipoproteins and ubiquinone-10-levels in patients with familial hypercholesterolemia. |
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. |
Sass C et al. (1995) Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia. |
204. |
Tikkanen MJ et al. (1978) Natural oestrogen as an effective treatment for type-II hyperlipoproteinaemia in postmenopausal women. |
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. |
Elston RC et al. (1976) Probable linkage between essential familial hypercholesterolemia and third complement component (C3). |
213. |
OMIM.ORG article Omim 605019 |