An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding

Sitosterolemia (OMIM #210250) is a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 (ABCG5) or 8 (ABCG8), which play roles in the intestinal and biliary excretion of cholesterol and plant sterols, such as sitosterol and campe...

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Detalles Bibliográficos
Autores principales: Yoshida, Aya, Aoyama, Kohei, Yamaguchi, Naoya, Suzuki, Atsushi, Mizuno, Haruo, Tada, Hayato, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10068626/
https://www.ncbi.nlm.nih.gov/pubmed/37020702
http://dx.doi.org/10.1297/cpe.2022-0075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10068626/
https://www.ncbi.nlm.nih.gov/pubmed/37020702
http://dx.doi.org/10.1297/cpe.2022-0075

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