Abstract
We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Aging / metabolism
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Aging / pathology*
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Anthropometry
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Cholesterol / biosynthesis
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Female
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Humans
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Male
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Phenotype
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Smith-Lemli-Opitz Syndrome / metabolism*
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Smith-Lemli-Opitz Syndrome / pathology*
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Smith-Lemli-Opitz Syndrome / physiopathology