G. Stephen Tint

A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAIN

Toshiaki Setoguchi, Gerald Salen, G. Stephen Tint et al. · Journal of Clinical Investigation · 1974 · 225 citations · Full text

Life Sciences, Biochemistry, Enzymology +16

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

G Salen, Ivan D. Horak, Michael M. Rothkopf et al. · Journal of Lipid Research · 1985 · 217 citations · Full text

Life Sciences, Biochemistry, Pathology +12

Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis.

G Salen, Virgie G. Shore, G. Stephen Tint et al. · Journal of Lipid Research · 1989 · 194 citations · Full text

Life Sciences, Endocrinology, Nutritional Sciences +17

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Ellen Roy Elias, Mira Irons, Anne Hurley et al. · American Journal of Medical Genetics · 1997 · 171 citations

Medicine, Dermatology, Pediatrics +14

7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Barbara U. Fitzky, Fabian F. Moebius, Hitoshi Asaoka et al. · Journal of Clinical Investigation · 2001 · 155 citations · Full text

Life Sciences, Biochemistry, Genetics +17