Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.
Widhalm
Kurt
K
Department of Pediatrics, Division of Clinical Nutrition and Metabolism, Medical University of Vienna, Vienna, Austria.
Binder
Christoph Benedikt
CB
Kreissl
Alexandra
A
Aldover-Macasaet
Elsie
E
Fritsch
Maria
M
Kroisboeck
Susanne
S
Geiger
Harald
H
D002675:Child, Preschool; D054059:Coronary Occlusion / Q000235:genetics*; D003645:Death, Sudden / Q000209:etiology*; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL