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Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome

Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase (or sterol-C5-desaturase or SC5D). This leads to a block in conversion of lathosterol into 7-dehydrocholesterol. Only three patients with lathosterolosis have been...

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Detalhes bibliográficos
Main Authors: Ho, A. C. C., Fung, C. W., Siu, T. S., Ma, O. C. K., Lam, C. W., Tam, S., Wong, V. C. N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897790/
https://ncbi.nlm.nih.gov/pubmed/24142275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_255
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