Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia

BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD). Both the heterozygous form and the very severe homozygous form can be diagnosed by genetic testing and by clin...

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Detalles Bibliográficos
Autores principales: Reijman, M.D., Defesche, J.C., Wiegman, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Special Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624405/
https://www.ncbi.nlm.nih.gov/pubmed/36752612
http://dx.doi.org/10.1097/MOL.0000000000000863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624405/
https://www.ncbi.nlm.nih.gov/pubmed/36752612
http://dx.doi.org/10.1097/MOL.0000000000000863

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