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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Marz, W; Beil, FU; Dieplinger, H.
Genetic diseases of lipid metabolism Focus familial hypercholesterolemia
DEUT MED WOCHENSCHR. 2022; 147(10): E50-E61. Doi: 10.1055/a-1516-2541
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März Winfried
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Abstract:
Congenital disorders of lipid metabolism are characterised by LDL-C concentrations > 190 mg/dl (4.9 mM) and/or triglycerides > 200 mg/dl (2.3 mM) in young individuals after having excluded a secondary hyperlipoproteinemia. Further characteristics of this primary hyperlipoproteinemia are elevated lipid values or premature myocardial infarctions within families or xantelasms, arcus lipoides, xanthomas and abdominal pain. This overview summarises our current knowledge of etiology and pathogenesis of primary hyperlipoproteinemia.

Find related publications in this database (Keywords)
genetic disorders of lipoprotein metabolism
familial hypercholesterolemia
familial combined hypolipoproteinemia
polygenic hypercholesterolemia
genetic diagnosis
atherosclerosis
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