Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5

We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our ho...

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Detalles Bibliográficos
Autores principales: Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Takamura, Masayuki, Kawashiri, Masa-aki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908398/
https://www.ncbi.nlm.nih.gov/pubmed/35705271
http://dx.doi.org/10.2169/internalmedicine.0050-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908398/
https://www.ncbi.nlm.nih.gov/pubmed/35705271
http://dx.doi.org/10.2169/internalmedicine.0050-22

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