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    Detection of defective 3β-hydroxysterol Δ7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome

    Patients with the autosomal recessive disorder Smith-Lemli-Opitz syndrome (SLO) have recently been shown to have markedly increased tissue levels of certain cholesterol biosynthesis intermediates, most notably...

    E. Lund, L. Starck, N. Venizelos in Journal of Inherited Metabolic Disease (1996)