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Article

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.

The American journal of case reports - 27 Apr 2023

Kamal Aisyah, Kanchau Johanes Dedi, Shahuri Nur Syahirah, Mohamed-Yassin Mohamed-Syarif, Baharudin Noorhida, Abdul Razak Suraya, Badlishah-Sham Siti Fatimah, Abdul-Hamid Hasidah, Abdul Aziz Aznida Firzah, Al-Khateeb Alyaa, Chua Yung An, Mohd Kasim Noor Alicezah, Sheikh Abdul Kadir Siti Hamimah, Nawawi Hapizah, Qureshi Nadeem, Ramli Anis Safura

Abstract excerpt

BACKGROUND In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. CASE REPORT In this case series, we report 3 FH cases detected in primary care due to mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein-B (APOB), and proprotein convertase...

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37185657
DOI: 10.12659/AJCR.939489
PMCID: PMC10152508

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