Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/8904_2013_255
Reference7 articles.
1. Brunetti-Pierri N, Corso G, Rossi M et al (2002) Lathosterolosis, a novel multiple-malformation / mental retardation syndrome due to deficiency of 3-beta-hydroxysteroid-delta-5-desaturase. Am J Hum Genet 71:952–958
2. Hippisley-Cox J, Coupland C (2010) Unintended effects of statins in men and women in England and Wales: population based cohort study using the QResearch database. BMJ 340:c2197
3. Krakowiak PA, Wassif CA, Kratz L et al (2003) Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Molec Genet 12:1631–1641
4. Parnes S, Hunter AG, Jimenez C, Carpenter BF, MacDonald I (1990) Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. Am J Med Genet 35(3):397–405
5. Porter FD (2003) Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 15:607–613
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