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1Academic Journal
المؤلفون: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Silvia Palmisano, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Randa Bittar, Olga Kalmykova, Sophie Béliard, Alain Carrié, Marcello Arca, Eric Bruckert
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: Homozygous hypercholesterolemia, Lipoprotein apheresis, Lomitapide, LDL, Therapeutics, Genetic disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2Academic Journal
المؤلفون: Andrey V. Susekov, Balakhonova T.V., Vladislav M. Soloviev, Yuliia S. Isaeva, Irina M. Miklashevich, Irina V. Leontieva
المصدر: Клинический разбор в общей медицине, Vol 1, Iss 1, Pp 35-41 (2020)
مصطلحات موضوعية: homozygous hypercholesterolemia, familial hypercholesterolemia, low-density lipoprotein cholesterol, rosuvastatin, ezetimibe, evolocumab, combination therapy, slowing the atherosclerosis progression, Internal medicine, RC31-1245
وصف الملف: electronic resource
Relation: https://klin-razbor.ru/en/archive/2020/vol-1-1-2020/patient-with-homozygous-familial-hypercholesterolemia-difficult-to-treat-case-report_5940/?element; https://doaj.org/toc/2713-2552
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3Academic Journal
المؤلفون: Laura D’Erasmo (11410713), Antonio Gallo (340926), Angelo Baldassare Cefalù (5330264), Alessia Di Costanzo (11410716), Samir Saheb (249824), Antonina Giammanco (5330255), Maurizio Averna (564584), Alessio Buonaiuto (11410719), Gabriella Iannuzzo (11410722), Giuliana Fortunato (11410725), Arturo Puja (11410728), Tiziana Montalcini (4068379), Chiara Pavanello (4846771), Laura Calabresi (545881), Giovanni Battista Vigna (5330252), Marco Bucci (808435), Katia Bonomo (5330237), Fabio Nota (11410731), Tiziana Sampietro (5330240), Francesco Sbrana (2963376), Patrizia Suppressa (5330261), Carlo Sabbà (427739), Fabio Fimiani (11410734), Arturo Cesaro (11410737), Paolo Calabrò (4529500), Silvia Palmisano (11410740), Sergio D’Addato (1634032), Livia Pisciotta (10159490), Stefano Bertolini (11410743), Randa Bittar (421268), Olga Kalmykova (11410746), Sophie Béliard (11410749), Alain Carrié (10053156), Marcello Arca (727949), Eric Bruckert (157136)
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4Academic Journal
المؤلفون: I. V. Leontyeva, И. В. Леонтьева
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 4 (2021); 118-128 ; Российский вестник перинатологии и педиатрии; Том 66, № 4 (2021); 118-128 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2021-66-4
مصطلحات موضوعية: генетические аспекты, familial homozygous hypercholesterolemia, lipid-lowering therapy, diagnostic criteria, genetic aspects, семейная гомозиготная гиперхолестеринемия, гиполипидемическая терапия, критерии диагностики
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/1453/1124; Gidding S.S., Champagne M.A., de Ferranti S.D., Defesche J., Ito M.K., Knowles JW. et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation 2015; 132(22): 2167-2192. DOI:10.1161/CIR.0000000000000297; Cuchel M., Bruckert E., GinsbergH. N., Raal F.J., Santos R. D., Hegele R.A. et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35(32): 2146–2157. DOI:10.1093/eurheartj/ehu274; Nordestgaard B.J., Chapman M.J., Humphries S.E., Gins-berg H.N., Masana L. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34(45): 3478–3490. DOI:10.1093/eurheartj/eht273; Sjouke B., Kusters D.M., Kindt I., BesselingJ., Defesche J.et al. Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36(9): 560– 565. DOI:10.1093/eurheartj/ehu058; Usifo E., Leigh S.E., Whittall R.A., Lench N., Taylor A., Yeats C. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76: 387–401. DOI:10.1111/j.1469–1809.2012.00724.x; Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007; 4: 214–225. DOI:10.1038/ncpcardio0836; Raal F.J., Santos R.D. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012; 223: 262–268. DOI:10.1016/j.atherosclerosis.2012.02.019; Horton J.D., Cohen J.C., Hobbs H.H. PCSK9: a convertase that coordinates LDL catabolism. Lipid Res 2009; 50(Suppl): S172–177. DOI:10.1194/jlr.R800091-JLR200; Akram O.N., Bernier A., Petrides F., Wong G., Lambert G. Beyond LDL cholesterol, a new role for PCSK9. Arterioscler Thromb Vasc Biol 2010; 30: 1279–1281. DOI:10.1161/ATVBAHA.110.209007; Lambert G., Sjouke B., Choque B., Kastelein J.J., HovinghG.K. The PCSK9 decade. J Lipid Res 2012; 53: 2515–2524. DOI:10.1194/jlr.R026658; WiegmanA.,GiddingS.,WattsG.,ChapmanM.,GinsbergH., CuchelM.etal. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing. Eur Heart J 2015; 36: 2425–2437. DOI:10.1093/eurheartj/ehv157; France M. Homozygous familial hypercholesterolaemia: update on management. Paediatr Int Child Health 2016; 36(4): 243–247. DOI:10.1080/20469047.2016.1246640; Kolansky D.M., Cuchel M., Clark B.J., Paridon S., McCrindle B.W., Wiegers S. et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008; 102: 1438–1444. DOI:10.1016/j.amjcard.2008.07.035; Macchiaiolo M., GagliardiM.G., Toscano A., Guccione P., Bartuli A. Homozygous familial hypercholesterolaemia. Lancet 2012; 379: 1330. DOI:10.1016/S0140-6736(11)61476-1; Gautschi M., Pavlovic M., Nuoffer J.M. Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. JIMD Rep 2012; 2: 45–50. DOI:10.1007/8904_2011_45; Леонтьева И.В., Довгань М.И., Мешков А.Н. Семейная гиперхолестеринемия как причина раннего атеросклероза у детей. В книге “Сложные диагностические случаи в практике детского врача” под ред. А.Д. Царегородцева, В.В. Длина. Москва: Орефлей 2010; 222–240.; RajendranR., Srinivasa K.H., RanganK., Hegde M., Ahmed N. Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia. Eur Heart J Cardiovasc Imag 2013;14: 1023. DOI:10.1093/ehjci/jet072; Koh T.W. Aortic root involvement in homozygous familial hypercholesterolemia transesophageal echocardiographic appearances of supravalvular aortic stenosis. Echocardiography 2005; 22: 859–860. DOI:10.1111/j.1540-8175.2005.00123.x; Santos R.D., Miname M.H., MartinezL.R., Rochitte C.E., Chacra A.P., Nakandakare E.R. et al. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Atheroslerosis 2008; 197: 910– 915. DOI:10.1016/j.atherosclerosis.2007.08.017; Watts G.F., Gidding S., Wierzbicki A.S., Toth P.P., AlonsoR., Brown W. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171(3): 309–25. DOI:10.1016/j.ijcard.2013.11.025; Raal F.J., Pilcher G.J., Panz V.R., van Deventer H.E., Brice B.C., Blom D.J. et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–2207. DOI:10.1161/CIRCULATIONAHA.111.042523; Radaelli G., Sausen G., CiceriCesa C., Santo F., Porta V.,Neyeloff J.et al.Statin Treatments And Dosages In Children With Familial Hypercholesterolemia: Meta-Analysis. Arq Bras Cardiol 2018; 111(6): 810–821. DOI:10.5935/abc.20180180; Pisciotta L., Priore Oliva C., Pes G.M., Di Scala L., Bellocchio A., Fresa R. et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 2006; 188: 398–405. DOI:10.1016/j.atherosclerosis.2005.11.016; De Jongh S., Ose L., Szamosi T., Gagne C., Lambert M., Scott R. et al. Simvastatin in Children Study Group: Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin. Circulation 2002; 106: 2231–2237; Baigent C., Blackwell L. Cholesterol Treatment Trialists’ (CTT) Collaboration. Efficacy and safety of more intensive lowering of LDL cholesterol:a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010; 376: 1670–1681. DOI:10.1016/S0140-6736(10)61350-5; Harada-Shiba M., Arai H., Oicava S., Ohta T.J. Guidelines for the management of familial hypercholesterolemia AtherosclerTromb 2012; 19: 1043–1060. DOI:10.5551/jat.14621; Gagné C., Gaudet D., Bruckert E. Ezetimibe Study Group. Efficacy and Safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002; 105(21): 2469–2475. DOI:10.1161/01.CIR.0000018744.58460.62; Stein E.A., Honarpour N., Wasserman S.M., Xu F., Scott R., Raal F.J. Effect of the Proprotein Convertase Subtilisin/ Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia. Circulation 2013; 128(19): 2113–2120. DOI:10.1161/CIRCULATIONA-HA.113.004678; Raal F.J., Honarpour N., Blom D.J., Hovingh G.K., Xu F., Scott R. et al. TESLA Investigators. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385(9965): 341–350. DOI:10.1016/S0140-6736(14)61374-X; Леонтьева И.В. Современные подходы к лечению семейной гомозиготной гиперхолестеринемии. Российский вестник перинатологии и педиатрии 2017; 62(4): 71–80.; Schuff-Werner P., Fenger S., Kohlschein P. Role of lipid apheresis in changing times. Clin Res Cardiol Suppl 2012; 7: 7–14. DOI:10.1007/s11789-012-0049-3; Stefanutti C., Julius U. Lipoprotein apheresis: state of the art and novelties. Atheroscler Suppl 2013; 14: 19–27. DOI:10.1111/j.1744-9987.2012.01142; Beliard S., Gallo A., Duchêne E., Carrié A., Bittar R., Chap-man J. et al. Lipoprotein-apheresis in familial hypercholesterolemia: Long-term patient compliance in a French cohort atherosclerosis. 2018. Atherosclerosis 2018; 277: 66–71. DOI: org/10.1016/j; Ibrahim M., El-Hamamsy I., Barbir M., Yacoub M.H. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J Cardiovasc Transl Res 2012; 5: 351–358. DOI:10.1007/s12265-011-9311-1; KucukkartallarT., Yankol.Y., KanmazT., Topaloglu S., AcarliK., KalayogluM. Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia. Pediatr Transplant 2011; 15: 281–284. DOI:10.1111/j.1399-3046.2010.01469.x; Malatack J.J. Liver transplantation as treatment for familial homozygous hypercholesterolemia: too early or too late. Pediatr Transplant 2011; 15: 123–112. DOI:10.1111/j.1399-3046.2010.01458.x; MlinaricM., Bratanic N., Dragos V., Skarlovnik A., Cevc M., Battelino T. et al. Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH) – Long-Term Follow-Up of a Patient and Literature Review. Front Pediatr 2020; 8: article567895. DOI:10.3389/fped.2020.567895; Raper A., Kolansky D.M., Sachais B.S., Meagher E.A., Baer A.L., Cuchel M. Long-term clinical results of microsomal triglyceride transfer protein inhibitor use in a patient with homozygous familial hypercholesterolemia. J Clin Lipidol. 2015; 9(1): 107–112. DOI:10.1016/j.jacl.2014.08.005; Kolovou G., Diakoumakou O., Kolovou V., Fountas E., Stratakis S., Zacharis E. et al. Microsomal triglyceride transfer protein inhibitor (lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia. Eur J Prev Cardiol 2020; 27(2): 157–165. DOI:10.1177/2047487319870007; Chacra A.P.M., Ferrari M.C., Rocha V.Z., Santos R.D. Case report: The efficacy and safety of lomitapide in a homozygous familial hypercholesterolemic child. J Clin Lipidol 2019; 13: 397–401. DOI:10.1016/j.jacl.2019.03.001; https://www.ped-perinatology.ru/jour/article/view/1453
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5Academic Journal
المؤلفون: I. V. Leontyeva, И. В. Леонтьева
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 62, № 4 (2017); 71-80 ; Российский вестник перинатологии и педиатрии; Том 62, № 4 (2017); 71-80 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-62-4
مصطلحات موضوعية: ранний атеросклероз, homozygous hypercholesterolemia, diagnosis, treatment, xanthomas, early atherosclerosis, гомозиготная гиперхолестеринемия, диагностика, лечение, ксантомы
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/529/521; Gidding S.S., Champagne M.A., de Ferranti S.D., Defesche J., Ito M.K. et.al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation 2015; 132 (22): 2167–2192. DOI:10.1161/CIR.0000000000000297.; Nordestgaard B.J., Chapman M.J., Humphries S.E., Gins-berg H.N., Masana L. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34 (45): 3478–3490. DOI:10.1093/ eurheartj/eht273.; Cuchel M., Bruckert E., Ginsberg H.N., Raal F.J., Santos R.D. et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35 (32): 2146– 2157. DOI:10.1093/eurheartj/ehu274.; Goldstein J.K., Hobbs H.H., Brown M.S. Familial hypercholesterolemia. In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001; 2863–2913.; Usifo E., Leigh S.E., Whittall R.A., Lench N., Taylor A., Yeats C. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76: 387–401. DOI:10.1111/j.1469-1809.2012.00724.x.; Raal F.J., Santos R.D. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012; 223: 262–268. DOI:10.1016/j.atherosclerosis.2012.02.019.; Soutar A.K, Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Car-diovasc Med 2007; 4: 214–225. DOI:10.1038/ncpcardio0836; Horton J.D., Cohen J.C., Hobbs H.H. PCSK9: a convertase that coordinates LDL catabolism. Lipid Res 2009; 50 (Suppl): S172–177. DOI:10.1194/jlr.R800091-JLR200.; Akram O.N., Bernier A., Petrides F., Wong G., Lambert G. Beyond LDL cholesterol, a new role for PCSK9. Arterioscler Thromb Vasc Biol 2010; 30: 1279–1281. DOI:10.1161/ ATVBAHA.110.209007.; Lambert G., Sjouke B., Choque B., Kastelein J.J., Hovingh G.K. The PCSK9 decade. J Lipid Res 2012; 53: 2515–2524. DOI:10.1194/jlr.R026658.; France M. Homozygous familial hypercholesterolaemia: update on management. Paediatr Int Child Health 2016; 36 (4): 243–247. DOI:10.1080/20469047.2016.1246640.; Kolansky D.M., Cuchel M., Clark B.J., Paridon S., McCrindle B.W. et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008; 102: 1438–1444. DOI:10.1016/j.amjcard.2008.07.035.; Rajendran R., Srinivasa K.H., Rangan K., Hegde M., Ahmed N. Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia. Eur Heart J Cardiovasc Imagi ng 2013; 14: 1023. DOI:10.1093/ehjci/jet072.; Santos R.D., Miname M.H., Martinez L.R., Rochitte C.E., Chacra A.P. et al. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Atheroslerosis 2008; 197: 910–915. DOI:10.1016/ j.atherosclerosis.2007. 08.017.; Koh T.W. Aortic root involvement in homozygous familial hypercholesterolemia transesophageal echocardiographic appearances of supravalvular aortic stenosis. Echocardiography 2005; 22: 859–860. DOI:10.1111/ j.1540-8175.2005.00123.x.; Watts G.F., Gidding S., Wierzbicki A.S., Toth P.P., Alon-so R. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171 (3): 309–325. DOI:10.1016/ j.ijcard.2013.11.025.; Daniels S.R., Gidding S.S., de Ferranti S.D. National Lipid Association Expert Panel on Familial Hypercholesterolemia. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5 (3 Suppl): S30–37. DOI:10.1016/j.jacl. 2011.03.453.; Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary Report. Pediatrics 2011; 128: S213–256. DOI:10.1542/ peds.2009-2107C.; Lütjohann D., von Bergmann K., Sirah W., Macdonell G., Johnson-Levonas A.O., Shah A. Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. Int J Clin Pract 2008; 62 (10): 1499–1510. DOI:10.1111/j.1742– 1241.2008.01841.x.; Priest J.R., Knowles J.W. Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia Arterioscler Thromb Vasc Biol 2016; 36 (8): 1465–1466. DOI:10.1161/ATVBAHA.116.307714.; Renner C., Connor W.E., Steiner R.D. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. Clin Med Res 2016; 14 (2): 103–108. DOI:10.3121/ cmr.2016.1294.; Rodenburg J., Vissers M.N., Wiegman A., van Trotsenburg A.S., van der Graaf A. et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation 2007; 116: 664–668.; De Jongh S., Ose L., Szamosi T., Gagne C., Lambert M., Scott R., Perron P. Simvastatin in Children Study Group: Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin. Circulation 2002; 106: 2231–2237.; Avis L.M., Hutten B.A., Gagné C., Langslet G., McCrindle B.W., Wiegman A., Hsia J., Kastelein J.J., Stein E.A. Efficacy and safety of rosuvastatin therapy for children with familial hypercholesterolemia. J Am Coll Cardiol 2010; 55 (11): 1121–1126. DOI:10.1016/j.jacc.2009.10.042.; Baigent C., Blackwell L. Cholesterol Treatment Trialists’ (CTT) Collaboration Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010; 376: 1670–1681. DOI:10.1016/S0140-6736(10)61350-5.; Harada-Shiba M., Arai H., Oicava S., Ohta T.J. Guidelines for the management of familial hypercholesterolemia Atheroscler Tromb 2012; 19: 1043–1060.; van der Graaf A., Cuffie-Jackson C., Vissers M.N., Trip M.D., Gagné C., Shi G., Veltri E., Avis H.J., Kastelein J.J. Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemia. J Am Coll Cardiol 2008; 52 (17): 1421–1429. DOI:10.1016/j.jacc.2008.09.002.; Gagné C., Gaudet D., Bruckert E., Ezetimibe Study Group. Efficacy and Safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002; 105 (21): 2469–2475. DOI:org/10.1161/01. CIR.0000018744.58460.62.; Raal F.J., Stein E.A., Dufour R., Turner T., Civeira F., Burgess L., Langslet G. et al. PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385 (9965): 331–340. DOI:10.1016/S0140-6736(14)61399-4.; Stein E.A., Honarpour N., Wasserman S.M., Xu F., Scott R., Raal F.J. Effect of the Proprotein Convertase Subtilisin/ Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia. Circulation 2013; 128 (19): 2113–2120. DOI: org/10.1161 /CIRCULATIONA -HA. 113.004678.; Raal F.J., Honarpour N., Blom D.J., Hovingh G.K., Xu F., Scott R., Wasserman S.M., Stein E.A. TESLA Investigators. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385 (9965): 341–350. DOI:10.1016/S0140-6736(14)61374-х.; Stefanutti C., Morozzi C., Di G.S. Italian multicenter study on low-density lipoprotein Apheresis Working Group 2009 survey. Ther Apher Dial 2013; 17: 169–178. Doi:10.1111/j.1744-9987.2012.01142.x.; Stefanutti C., Di G.S., Vivenzio A., Colloridi V., Bosco G. et al. Bertolini S. Low-density lipoprotein apheresis in a patient aged 3.5 years. Acta Paediatr 2001; 90: 694–701.; Hudgins L.C., Kleinman B., Scheuer A., White S., Gordon B.R. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 2008; 102 (9): 1199–1204. DOI:10.1016/j.amjcard.2008.06.049.; Maiorana A., Nobili V., Calandra S., Francalanci P., Bernabei S., El Hachem M., Monti L. Preemptive liver transplantation in a child with familial hypercholesterolemia,” Pediatr Transplant 2011; 15 (2): E25–E29. DOI 10.1111?j1399-3046.2010.011383.; Palacio C.H., Harring T.R., Nguyen N. T., Goss J.A. Case Rep transplant 2011; 2011: 154908. DOI:10.1155/2011/154908.; https://www.ped-perinatology.ru/jour/article/view/529
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المؤلفون: Laura D’Erasmo (11410713), Antonio Gallo (340926), Angelo Baldassare Cefalù (5330264), Alessia Di Costanzo (11410716), Samir Saheb (249824), Antonina Giammanco (5330255), Maurizio Averna (564584), Alessio Buonaiuto (11410719), Gabriella Iannuzzo (11410722), Giuliana Fortunato (11410725), Arturo Puja (11410728), Tiziana Montalcini (4068379), Chiara Pavanello (4846771), Laura Calabresi (545881), Giovanni Battista Vigna (5330252), Marco Bucci (808435), Katia Bonomo (5330237), Fabio Nota (11410731), Tiziana Sampietro (5330240), Francesco Sbrana (2963376), Patrizia Suppressa (5330261), Carlo Sabbà (427739), Fabio Fimiani (11410734), Arturo Cesaro (11410737), Paolo Calabrò (4529500), Silvia Palmisano (11410740), Sergio D’Addato (1634032), Livia Pisciotta (10159490), Stefano Bertolini (11410743), Randa Bittar (421268), Olga Kalmykova (11410746), Sophie Béliard (11410749), Alain Carrié (10053156), Marcello Arca (727949), Eric Bruckert (157136)
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7
المؤلفون: Joel Vargas-Sánchez, Norma Alejandra Vázquez Cárdenas, Ramón Madriz-Prado, Carlos A. Aguilar-Salinas, José Juan Ceballos-Macías, Guillermo Ortega-Gutiérrez, Alfredo Hernández-Moreno, María Teresa Tusié-Luna, Jorge Alberto Flores-Real, Carolina Lara-Sánchez
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Case Report, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, kexin type 9 gene, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ezetimibe, Internal medicine, Medicine, 030212 general & internal medicine, familial heterozygous hypercholesterolemia, Index case, premature cardiovascular disease, LDL receptor gene, Cholestyramine, familial hypercholesterolemia, business.industry, Cholesterol, PCSK9, medicine.disease, Regimen, chemistry, familial homozygous hypercholesterolemia, business, protein convertase subtilisin, medicine.drug
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8Academic Journal
المؤلفون: Küçükçongar A., Yenicesu I., Tümer L., Kasapkara C.S., Ezgü F.S., Paşaoglu O., Demirtaş C.
المساهمون: Küçükçongar A., Yenicesu I., Tümer L., Kasapkara C.S., Ezgü F.S., Paşaoglu O., Demirtaş C., Zonguldak Bülent Ecevit Üniversitesi
مصطلحات موضوعية: Adhesion molecules, Apheresis, Children, Homozygous hypercholesterolemia
Relation: Transfusion and Apheresis Science; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; 391; 396; 48; https://dx.doi.org/10.1016/j.transci.2013.04.024; https://hdl.handle.net/20.500.12628/4322
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9
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10Academic Journal
المؤلفون: A. OKADA, A. YAMAMOTO, H. YAMASHITA, Y. KAWASHIMA, 北村 總一郎, 山下 裕, 山本 章, 岡田 正, 川島 康生, 黒島 俊夫
المصدر: 動脈硬化 / The Journal of Japan Atherosclerosis Society. 1979, 6(4):517
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11Academic Journal
المؤلفون: Fumio KUZUYA, Hirohisa KAWAHARA, Kanichi ASAI, Noboru YOSHIMINE, 吉峯 徳, 川原 弘久, 浅井 幹一, 葛谷 文男
المصدر: 動脈硬化 / The Journal of Japan Atherosclerosis Society. 1991, 19(6-7):677
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12
المؤلفون: Amjaad AlMarjan, Fawwaz AlMutairi
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, lipids (amino acids, peptides, and proteins), business, Familial homozygous hypercholesterolemia, IJAR
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13
المؤلفون: Rohit Kohli, Akihiro Asai
المصدر: Pediatric Transplantation. 19:577-579
مصطلحات موضوعية: Male, Transplantation, medicine.medical_specialty, business.industry, medicine.medical_treatment, Liver transplantation, Liver Transplantation, Hyperlipoproteinemia Type II, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, business, Familial homozygous hypercholesterolemia
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14
المؤلفون: Marco Bucci, Tiziana Sampietro, Maurizio Averna, Fulvio Sileo, Paolo Pintus, Antonina Giammanco, Patrizia Suppressa, Francesco Natale, Davide Noto, Cesare Sirtori, Carlo Sabbà, Paolo Medde, Paolo Calabrò, Giovanni Battista Vigna, Laura Calabresi, Angelo B. Cefalù, Laura D'Erasmo, Francesco Sbrana, Marcello Arca, Katia Bonomo, Federico Bigazzi, Chiara Pavanello
المساهمون: D'Erasmo, Laura, Cefalù, Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, Calabresi, Laura, Pavanello, Chiara, Bucci, Marco, Sabbà, Carlo, Suppressa, Patrizia, Natale, Francesco, Calabro', Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello, D'Erasmo, L., Cefalu', A., Noto, D., Giammanco, A., Averna, M., Pintus, P., Medde, P., Vigna, G., Sirtori, C., Calabresi, L., Pavanello, C., Bucci, M., Sabbã , C., Suppressa, P., Natale, F., Calabrã², P., Sampietro, T., Bigazzi, F., Sbrana, F., Bonomo, K., Sileo, F., Arca, M.
مصطلحات موضوعية: Male, Settore MED/09 - Medicina Interna, Hyperlipidemia, Familial Combined, 030204 cardiovascular system & hematology, Pharmacology, Benzimidazole, cholesterol-lowering effect, clinical practice, genetics, lomitapide, severe hypercholesterolemia, medicine (all), pharmacology (medical), chemistry.chemical_compound, 0302 clinical medicine, Retrospective Studie, Anticholesteremic Agent, 030212 general & internal medicine, Aged, 80 and over, Anticholesteremic Agents, Homozygote, General Medicine, Middle Aged, Safety profile, Italy, lipids (amino acids, peptides, and proteins), Female, Human, Adult, medicine.medical_specialty, Socio-culturale, Liver ultrasound, LDLRAP1 gene, Hyperlipoproteinemia Type II, 03 medical and health sciences, Genetic, Internal medicine, medicine, Humans, Liver damage, Familial homozygous hypercholesterolemia, Aged, Retrospective Studies, business.industry, medicine.disease, Rheumatology, Lomitapide, chemistry, Benzimidazoles, business, Dyslipidemia
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15
المؤلفون: Sumangala Kadi, Shubha Jayaram, N. Sreenivasa, Meera S
المصدر: Indian Journal of Clinical Biochemistry. 27:309-313
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Clinical Biochemistry, Population, nutritional and metabolic diseases, Case Report, Familial hypercholesterolemia, medicine.disease, Premature atherosclerosis, medicine, lipids (amino acids, peptides, and proteins), Serum LDL Cholesterol, education, business, Familial homozygous hypercholesterolemia
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16
المؤلفون: Nimai Chand Chandra, Kudligi Chandramohan, Gomathy Sethuraman, Sushruta Shefali Dash, Selvendran Sugandhan, Aggarwal Komal, Vinod Kumar Sharma, Gautam Sharma
المصدر: Pediatric Dermatology. 24:230-234
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Dermatology, Intertriginous, Hyperlipoproteinemia Type II, Tendons, chemistry.chemical_compound, Pathognomonic, Elbow, Xanthomatosis, medicine, Humans, Knee, Child, Lipoprotein cholesterol, Familial homozygous hypercholesterolemia, Foot, business.industry, Cholesterol, Homozygote, Metabolic disorder, Cholesterol, LDL, Hand, medicine.disease, Xanthelasma, chemistry, Pediatrics, Perinatology and Child Health, Female, lipids (amino acids, peptides, and proteins), business, Lipoprotein
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17
المؤلفون: Eylem Tuncer
المصدر: Turkish Journal of Thoracic and Cardiovascular Surgery. 22:168-170
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Familial hypercholesterolemia, medicine.disease, Coronary revascularization, Coronary artery disease, Increased risk, medicine.anatomical_structure, Internal medicine, medicine, Cardiology, Surgery, Low Density Lipoprotein Receptor Gene, Cardiology and Cardiovascular Medicine, business, Familial homozygous hypercholesterolemia, Artery
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18
المؤلفون: Kyproula Demetriou, Eleni H’Maltezou, Alkis Pierides
المصدر: Blood Purification. 19:308-313
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Long term treatment, Adolescent, medicine.medical_treatment, Familial hypercholesterolemia, Hyperlipoproteinemia Type II, Internal medicine, medicine, Humans, Child, Familial homozygous hypercholesterolemia, Vascular disease, business.industry, Incidence (epidemiology), Homozygote, Plasmapheresis, Hematology, General Medicine, medicine.disease, Double filtration plasmapheresis, Endocrinology, Nephrology, Child, Preschool, lipids (amino acids, peptides, and proteins), business, Rare disease
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19
المؤلفون: Ozge Tugce Pasaoglu, Günter Dilsiz, Idil Yenicesu, Fatih Süheyl Ezgü, Bülent Çelik, Aynur Küçükçongar, Leyla Tümer, Çiğdem Seher Kasapkara, Alev Hasanoglu, Canan Demirtas
المساهمون: Zonguldak Bülent Ecevit Üniversitesi
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Familial hypercholesterolemia, macromolecular substances, Extracorporeal, Hyperlipoproteinemia Type II, Internal medicine, medicine, Humans, In patient, Genetic Predisposition to Disease, Young adult, Child, Children, Inflammation, Cell adhesion molecule, business.industry, Homozygote, Homozygous hypercholesterolemia, Genetic disorder, Hematology, Cholesterol, LDL, medicine.disease, Atherosclerosis, Lipoproteins, LDL, Apheresis, Cytokine, Endocrinology, Gene Expression Regulation, Immunology, Blood Component Removal, Cytokines, Female, business, Adhesion molecules
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20
المصدر: Annals of Pediatric Cardiology, Vol 7, Iss 2, Pp 118-119 (2014)
Annals of Pediatric Cardiologyمصطلحات موضوعية: medicine.medical_specialty, Pediatrics, lcsh:Diseases of the circulatory (Cardiovascular) system, Images in Pediatric Cardiology, Arterial disease, xanthoma tuberosum, lcsh:Medicine, Familial hypercholesterolemia, Coronary artery disease, Internal medicine, medicine, Young adult, Xanthoma tuberosum, Familial homozygous hypercholesterolemia, hypercholesterolemia, business.industry, lcsh:R, lcsh:RJ1-570, nutritional and metabolic diseases, food and beverages, lcsh:Pediatrics, medicine.disease, Premature death, lcsh:RC666-701, Pediatrics, Perinatology and Child Health, Cardiology, Severe morbidity, Cardiology and Cardiovascular Medicine, business