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Items: 1 to 20 of 95

1.

Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.

El Aziz S, Chadli A, El Ghomari H, Farouqi A.

BMJ Case Rep. 2012 May 23;2012. pii: bcr0220125717. doi: 10.1136/bcr.02.2012.5717.

2.

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

Lind S, Olsson AG, Eriksson M, Rudling M, Eggertsen G, Angelin B.

J Intern Med. 2004 Nov;256(5):406-12.

4.

Familial hypercholesterolaemia: different perspectives.

Jones JL, Lakasing E, Archontakis S.

Nurs Stand. 2009 Aug 19-25;23(50):35-8.

PMID:
19736707
5.

A boy with autosomal recessive hypercholesterolaemia.

Rodenburg J, Wiegman A, Vissers MN, Kastelein JJ, Stalenhoef AF.

Neth J Med. 2004 Mar;62(3):89-93.

6.

Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).

Schaefer JR, Kurt B, Sattler A, Klaus G, Soufi M.

Clin Res Cardiol Suppl. 2012 Jun;7:2-6.

7.

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L, Fasano T, Bellocchio A, Bocchi L, Sallo R, Fresa R, Colangeli I, Cantafora A, Calandra S, Bertolini S.

Atherosclerosis. 2007 Oct;194(2):e116-22. Epub 2006 Nov 30.

PMID:
17140581
9.

Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia.

Raal FJ, Pappu AS, Illingworth DR, Pilcher GJ, Marais AD, Firth JC, Kotze MJ, Heinonen TM, Black DM.

Atherosclerosis. 2000 Jun;150(2):421-8.

PMID:
10856535
10.

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment.

Naoumova RP, Neuwirth C, Lee P, Miller JP, Taylor KG, Soutar AK.

Atherosclerosis. 2004 May;174(1):165-72.

PMID:
15135266
11.

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

El Messal M, Aït Chihab K, Chater R, Vallvé JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabès JP, Kettani A, Boileau C, Masana L, Adlouni A.

J Hum Genet. 2003;48(4):199-203. Epub 2003 Mar 18.

PMID:
12730724
12.

Management of a patient with a null low-density lipoprotein receptor mutation: a case report.

Kolovou GD, Dedoussis GV, Anagnostopoulou KK, Hatzigeorgiou GCh, Salpea KD, Choumerianou DM, Rammos S, Mikhailidis DP, Cokkinos DV.

Angiology. 2006 Dec-2007 Jan;57(6):729-32.

PMID:
17235114
13.

Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia.

Feher MD, Webb JC, Patel DD, Lant AF, Mayne PD, Knight BL, Soutar AK.

Atherosclerosis. 1993 Nov;103(2):171-80.

PMID:
8292093
14.

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Thompson GR, Seed M, Naoumova RP, Neuwirth C, Walji S, Aitman TJ, Scott J, Myant NB, Soutar AK.

Atherosclerosis. 2015 Nov;243(1):328-33. doi: 10.1016/j.atherosclerosis.2015.09.029. Epub 2015 Sep 28.

PMID:
26433113
15.

Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.

Miltiadous G, Xenophontos S, Bairaktari E, Ganotakis M, Cariolou M, Elisaf M.

Pharmacogenet Genomics. 2005 Apr;15(4):219-25.

PMID:
15864114
16.

Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

Kong MX, Zhang Q, Cao L, Zhao C, Ru GQ, Bi Q.

Clin Exp Dermatol. 2015 Oct;40(7):765-9. doi: 10.1111/ced.12644. Epub 2015 Mar 26.

PMID:
25807990
17.

Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.

Raal FJ, Santos RD.

Atherosclerosis. 2012 Aug;223(2):262-8. doi: 10.1016/j.atherosclerosis.2012.02.019. Epub 2012 Feb 16. Review.

PMID:
22398274
18.

The efficacy of colesevelam HCl in the treatment of heterozygous familial hypercholesterolemia in pediatric and adult patients.

Davidson M.

Clin Ther. 2013 Aug;35(8):1247-52. doi: 10.1016/j.clinthera.2013.06.014. Epub 2013 Jul 31. Review.

PMID:
23916045
19.

Colesevelam added to combination therapy with a statin and ezetimibe in patients with familial hypercholesterolemia: a 12-week, multicenter, randomized, double-blind, controlled trial.

Huijgen R, Abbink EJ, Bruckert E, Stalenhoef AF, Imholz BP, Durrington PN, Trip MD, Eriksson M, Visseren FL, Schaefer JR, Kastelein JJ; Triple Study Group.

Clin Ther. 2010 Apr;32(4):615-25. doi: 10.1016/j.clinthera.2010.04.014.

PMID:
20435231
20.

Baseline cholesterol absorption and the response to ezetimibe/simvastatin therapy: a post-hoc analysis of the ENHANCE trial.

Jakulj L, Vissers MN, Groen AK, Hutten BA, Lutjohann D, Veltri EP, Kastelein JJ.

J Lipid Res. 2010 Apr;51(4):755-62. doi: 10.1194/jlr.M001487. Epub 2009 Oct 14.

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