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Review Articles from PubMed
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Research Articles from PubMed
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From ...
To report a unique case of cataract in a young patient with lathosterolosis, a singular defect of cholesterol biosynthesis, and to report the clinical results and histopathologic findings after cataract surgery.
Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase. Only two patients have been described to date, both presenting with multiple malformations, mental retardation, and liver involvement. In addition in one of them ...