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All Journal Biomedical Journal of Indonesia
Khumaisiyah Khumaisiyah
Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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Genetics of Familial Hypercholesterolemia Ziske Maritska; Aditya Rafrenda; Amirah Adillah; Balqis Wulandari; Endah Rahmadani; Ernes Putra Gunawan; Khumaisiyah Khumaisiyah; Nur Rakhman Pratama; Trizky Nataza Putra
Biomedical Journal of Indonesia Vol. 9 No. 3 (2023): Vol 9, No 3, 2023
Publisher : Fakultas Kedokteran Universitas Sriwijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/bji.v9i3.166

Abstract

Cholesterol is a necessary component of numerous physiologic processes that must be strictly regulated. Multiple genetic disorders, such as Familial Hypercholesterolemia, frequently induce dysfunctional cholesterol metabolism. Familial hypercholesterolemia (FH) is a frequent hereditary autosomal co-dominant marked by disarray by increased plasma amounts of low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease. Familial Hypercholesterolemia (FH) is increasing but often remains underdiagnosed. This review aims to outline existing information on Familial Hypercholesterolemia with a focus on genetics, diagnostic strategies, treatments, and guidelines for management.
Co-Authors Aditya Rafrenda Amirah Adillah Balqis Wulandari Endah Rahmadani Ernes Putra Gunawan Nur Rakhman Pratama Trizky Nataza Putra Ziske Maritska