• A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
• Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature
• Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
• Cataract development in a young patient with lathosterolosis: a clinicopathologic case report
• Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review
• Cholesterol metabolism deficiency
• Cholesterol precursors and facial clefting
• Clinical phenotype of lathosterolosis
• Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
• Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
• Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome
• Human malformation syndromes due to inborn errors of cholesterol synthesis
• Lathosterolosis
• Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
• Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase
• Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome
• Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability
• Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
• Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease
• Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
• Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis
• Malformation syndromes caused by disorders of cholesterol synthesis
• Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency
• Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
• Sterol metabolism disorders and neurodevelopment-an update
• Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
• Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature