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- W2108178045 abstract "Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism for cholesterol synthesis. The enzyme defect involved in the syndrome is mutation of 7-Dehydrocholesterol reductase (DHCR7) which leads to increase in plasma concentration of 7- and 8-dehydrocholesterol (DHC) levels. The affected patients have different presentation and usually involve all systems of the body. We report a newborn who was diagnosed as case of SLOS on the basis of clinical and biochemical investigation." @default.
- W2108178045 created "2016-06-24" @default.
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- W2108178045 date "2014-01-01" @default.
- W2108178045 modified "2023-09-25" @default.
- W2108178045 title "Suspected Smith-Lemli-Opitz-Syndrome: A Very Rare Syndrome" @default.
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- W2108178045 doi "https://doi.org/10.4172/2167-0897.1000161" @default.
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