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- [1] [Anonymous], METABOLIC MOL BASES
- [2] 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[J]. EUROPEAN HEART JOURNAL, 2014, 35 (32) : 2146 - U100Cuchel, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USABruckert, Eric论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, Paris, France Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAGinsberg, Henry N.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, New York, NY USA Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USARaal, Frederick J.论文数: 0 引用数: 0 h-index: 0机构: Univ Witwatersrand, Johannesburg, South Africa Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USASantos, Raul D.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, BR-05508 Sao Paulo, Brazil Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, Canada Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAKuivenhoven, Jan Albert论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr, Groningen, Netherlands Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USANordestgaard, Borge G.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, DK-1168 Copenhagen, Denmark Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USADescamps, Olivier S.论文数: 0 引用数: 0 h-index: 0机构: Hop Jolimont, Antwerp, Belgium Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USASteinhagen-Thiessen, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Evangel Geriatriezentrum Berlin gGmbH, Berlin, Germany Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USATybjrg-Hansen, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen Univ Hosp, Rigshosp, DK-1168 Copenhagen, Denmark Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAWatts, Gerald F.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA 6009, Australia Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA论文数: 引用数: h-index:机构:Boileau, Catherine论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USABoren, Jan论文数: 0 引用数: 0 h-index: 0机构: Gothenburg Univ, S-41124 Gothenburg, Sweden Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USACatapano, Alberico L.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, I-20122 Milan, Italy Multimed IRCSS Milano, Milan, Italy Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USADefesche, Joep C.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAHovingh, G. Kees论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, London WC1E 6BT, England Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAKovanen, Petri T.论文数: 0 引用数: 0 h-index: 0机构: Wihuri Res Inst, SF-00140 Helsinki, Finland Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAMasana, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Rovira & Virgili, E-43201 Reus, Spain Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAPajukanta, Paivi论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Los Angeles, CA USA Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAParhofer, Klaus G.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, D-81377 Munich, Germany Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USARay, Kausik K.论文数: 0 引用数: 0 h-index: 0机构: St Georgess Univ London, London, England Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAStalenhoef, Anton F. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAStroes, Erik论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USATaskinen, Marja-Riitta论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAWiegman, Albert论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAWiklund, Olov论文数: 0 引用数: 0 h-index: 0机构: Sahlgrens Univ Hosp, Gothenburg, Sweden Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USAChapman, M. John论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, INSERM, Paris, France Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA
- [3] Hobbs Helen H., 1992, Human Mutation, V1, P445, DOI 10.1002/humu.1380010602
- [4] Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia[J]. JOURNAL OF CLINICAL LIPIDOLOGY, 2011, 5 (03) : S9 - S17Hopkins, Paul N.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Salt Lake City, UT USA Univ Utah, Sch Med, Salt Lake City, UT USAToth, Peter P.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Sch Med, Peoria, IL USA Univ Utah, Sch Med, Salt Lake City, UT USABallantyne, Christie M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Univ Utah, Sch Med, Salt Lake City, UT USARader, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Philadelphia, PA 19104 USA Univ Utah, Sch Med, Salt Lake City, UT USA
- [5] FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 - LOW-DENSITY LIPOPROTEINS WITH ABNORMAL RECEPTOR-BINDING[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (19) : 6919 - 6923INNERARITY, TL论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140WEISGRABER, KH论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140ARNOLD, KS论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140MAHLEY, RW论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140KRAUSS, RM论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140VEGA, GL论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140GRUNDY, SM论文数: 0 引用数: 0 h-index: 0机构: UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94140
- [6] Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease[J]. EUROPEAN HEART JOURNAL, 2013, 34 (45) : 3478 - +Nordestgaard, Borge G.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, Denmark Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkChapman, M. John论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, INSERM U939, Paris, France Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkGinsberg, Henry N.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, New York, NY USA Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkMasana, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Rovira & Virgili, E-43201 Reus, Spain Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkDescamps, Olivier S.论文数: 0 引用数: 0 h-index: 0机构: Hop Jolimont, Haine St Paul, Belgium Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkWiklund, Olov论文数: 0 引用数: 0 h-index: 0机构: Sahlgrens Univ Hosp, Gothenburg, Sweden Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, Canada Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkRaal, Frederick J.论文数: 0 引用数: 0 h-index: 0机构: Univ Witwatersrand, Johannesburg, South Africa Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkDefesche, Joep C.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkWiegman, Albert论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkSantos, Raul D.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkWatts, Gerald F.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA 6009, Australia Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkParhofer, Klaus G.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Munich, Germany Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkHovingh, G. Kees论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkKovanen, Petri T.论文数: 0 引用数: 0 h-index: 0机构: Wihuri Res Inst, SF-00140 Helsinki, Finland Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkBoileau, Catherine论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, Denmark论文数: 引用数: h-index:机构:Boren, Jan论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Gothenburg, Sweden Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkBruckert, Eric论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, Paris, France Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkCatapano, Alberico L.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Milan, Italy Multimed IRCSS Milano, Milan, Italy Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkKuivenhoven, Jan Albert论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr, Groningen, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkPajukanta, Paeivi论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Los Angeles, CA USA Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkRay, Kausik论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, London, England Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkStalenhoef, Anton F. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkStroes, Erik论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkTaskinen, Marja-Riitta论文数: 0 引用数: 0 h-index: 0机构: Biomedicum, Helsinki, Finland Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, DenmarkTybjaerg-Hansen, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Rigshosp, Copenhagen Univ Hosp, DK-2100 Copenhagen, Denmark Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, DK-2730 Copenhagen, Denmark
- [7] Diagnosing familial hypercholesterolaemia: the relevance of genetic testing[J]. EUROPEAN HEART JOURNAL, 2006, 27 (18) : 2240 - 2246van Aalst-Cohen, Emily S.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsJansen, Angelique C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsTanck, Michael W. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsDefesche, Joep C.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsTrip, Mieke D.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsLansberg, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsStalenhoef, Anton F. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, NetherlandsKastelein, John J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands
- [8] Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project[J]. PHYSIOLOGICAL RESEARCH, 2017, 66 : S1 - S9Vrablik, M.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Prague, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicVaclova, M.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Prague, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicTichy, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicSoska, V.论文数: 0 引用数: 0 h-index: 0机构: St Annes Univ Hosp Brno, Dept Clin Biochem, Brno, Czech Republic Masaryk Univ, Med Fac, Dept Internal Med 2, Dept Lab Methods, Brno, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicBlaha, V.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Med Fac, Dept Internal Med Gerontometab 3, Hradec Kralove, Czech Republic Univ Hosp Hradec Kralove, Hradec Kralove, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicFajkusova, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicCeska, R.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Prague, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicSatny, M.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Prague, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech RepublicFreiberger, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Lab Genet, Brno, Czech Republic Charles Univ Prague, Gen Univ Hosp, Dept Internal Med 3, Prague, Czech Republic