Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5‐desaturase) gene which encodes for the 3‐beta‐hydroxysteroid‐delta‐5‐desaturase (also called sterol‐C5‐desaturase or lathosterol dehydrogenase). Only six cases have been...

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Detalles Bibliográficos
Autores principales: Yaplito‐Lee, Joy, Pai, Gautham, Hardikar, Winita, Hong, Kai M., Pitt, James, Marum, Justine, Amor, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653246/
https://www.ncbi.nlm.nih.gov/pubmed/33204591
http://dx.doi.org/10.1002/jmd2.12158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653246/
https://www.ncbi.nlm.nih.gov/pubmed/33204591
http://dx.doi.org/10.1002/jmd2.12158

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