Associated Papers
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
Yaplito-Lee J et al.
Jimd Reports, 2020
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.
Anderson R et al.
Jimd Reports, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome.
Ho AC et al.
Jimd Reports, 2014
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Clinical phenotype of lathosterolosis.
Rossi M et al.
American Journal of Medical Genetics. Part A, 2007
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Herman GE
Human Molecular Genetics, 2003
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
Brunetti-Pierri N et al.
American Journal of Human Genetics, 2002
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