Sterol C5-Desturase Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1794-1
Reference11 articles.
1. Anderson R et al (2019) Lathosterolosis: a relatively mild case with cataracts and learning difficulties. JIMD Reports 44:79–84. https://doi.org/10.1007/8904_2018_127
2. Brunetti-Pierri N et al (2002) Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet 71:952–958. https://doi.org/10.1086/342668
3. Calvo PL et al (2014) Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis. Am J Transplant 14:960–965. https://doi.org/10.1111/ajt.12645
4. Chevy F, Humbert L, Wolf C (2005) Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. Prenat Diagn 25:1000–1006. https://doi.org/10.1002/pd.1254
5. Gelzo M et al (2019) Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. Lipids Health Dis 18:235. https://doi.org/10.1186/s12944-019-1176-3
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