Autosomal Recessive Hypercholesterolemia Caused by a Novel LDLRAP1 Variant and Membranous Nephropathy in a Chinese Girl: A Case Report

BACKGROUND: Autosomal recessive familial hypercholesterolemia (ARH) is a very rare lipid metabolic monogenic disorder caused by homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 (LDLRAP1) gene. It is a life-threatening disease characteriz...

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Detalles Bibliográficos
Autores principales: Feng, Siqin, Zhao, Xinyue, Wang, Yifei, Wang, Yiyang, Chen, Gang, Zhang, Shuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855038/
https://www.ncbi.nlm.nih.gov/pubmed/35187127
http://dx.doi.org/10.3389/fcvm.2022.811317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855038/
https://www.ncbi.nlm.nih.gov/pubmed/35187127
http://dx.doi.org/10.3389/fcvm.2022.811317

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