Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

A newly recognized syndromeof multiple congenital anomalies

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Abnormal cholesterol biosynthesis produced by AY 9944 in the rat leads to skeletal deformities similar to the Smith-Lemli-Opitz syndrome

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Smith-Lemli-Opitz Syndrome

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Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome

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Smith–Lemli–Opitz Syndrome

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Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS)

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Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays

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Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith–Lemli–Opitz Syndrome Presenting in the Neonate

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Human Cholesterol Biosynthesis Defects

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Smith-Lemli-Opitz Syndrome (SLOS)

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Peroxisomal Disorders

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Rare monogenic disorders of cholesterol metabolism

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A koleszterin-bioszintézis veleszületett zavara: a Smith–Lemli–Opitz-szindróma

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Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol

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Male Pseudohermaphroditism Caused by an Inborn Error in Cholesterol Biosynthesis: Smith-Lemli-Opitz Syndrome

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Unusual Detection of Lathosterol in Amniotic Fluids Investigated for the Determination of Cholesterol and 7-Dehydrocholesterol for Suspected Smith-Lemli-Opitz Syndrome

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substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation

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