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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013733119> ?p ?o ?g. }

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• W2013733119 abstract "Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following the finding of abnormally increased levels of intermediate metabolites in patients and confirmed by the demonstration of disease‐causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol in human embryogenesis and development. The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors." @default.
• W2013733119 created "2016-06-24" @default.
• W2013733119 creator A5057865344 @default.
• W2013733119 date "2006-07-20" @default.
• W2013733119 modified "2023-10-09" @default.
• W2013733119 title "Defects of cholesterol biosynthesis" @default.
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• W2013733119 doi "https://doi.org/10.1016/j.febslet.2006.07.027" @default.
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