Lathosterolosis
| Lathosterolosis | |
|---|---|
| Other names | SC5D Deficiency[1] |
 | |
| Lathosterol | |
Lathosterolosis is a defect in cholesterol biosynthesis.[2][3][4]
See also[]
- SC5DL
- Lathosterol
References[]
- ^ "OMIM Entry - # 607330 - LATHOSTEROLOSIS". omim.org. Retrieved 14 April 2019.
- ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12. Spec No 1 (90001): R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
- ^ Brunetti-Pierri N, Corso G, Rossi M, et al. (October 2002). "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase". Am. J. Hum. Genet. 71 (4): 952–8. doi:10.1086/342668. PMC 378549. PMID 12189593.
- ^ Krakowiak PA, Wassif CA, Kratz L, et al. (July 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency". Hum. Mol. Genet. 12 (13): 1631–41. doi:10.1093/hmg/ddg172. PMID 12812989.
External links[]
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