Defesche, Joep C.

Top Publications

Top Publications Authored or Co-Authored by "Defesche, Joep C."

• Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease

  European Heart Journal, Volume 34, No. 45, Year 2013, Citations 1823
• Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment with Alirocumab, a PCSK9 Monoclonal Antibody

  Circulation: Cardiovascular Genetics, Volume 8, No. 6, Year 2015, Citations 92
• Recent origin and spread of a common lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

  American Journal of Human Genetics, Volume 68, No. 5, Year 2001, Citations 50
• Mutations in the Gene for Lipoprotein Lipase a Cause for Low HDL Cholesterol Levels in Individuals Heterozygous for Familial Hypercholesterolemia

  Arteriosclerosis, Thrombosis, and Vascular Biology, Volume 15, No. 10, Year 1995, Citations 46
• Homozigot ailevi hiperkolesterolemi: Klinisyenlerin taniyi ve klinik yönetimi geliştirmelerine yönelik yeni anlayişlar ve rehberlik. Avrupa ateroskleroz derneǧi'nin ailevi hiperkolesterolemi üzerine uzlaşi paneli yazili görüşü

  Turk Kardiyoloji Dernegi Arsivi, Volume 43, Year 2015, Citations 30