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Lathosterolosis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Lathosterolosis" returned 0 free, full-text review articles. First 0 results:
No publications were found for this category.
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Lathosterolosis" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Lathosterolosis" returned 2 free, full-text research articles. First 2 results:
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
Last Updated: Mar 26, 2014

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 ...

Cataract development in a young patient with lathosterolosis: a clinicopathologic case report.
Last Updated: Sep 17, 2019

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.

Clinical phenotype of lathosterolosis.
Last Updated: Sep 28, 2020

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 ...

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