Leesa M. Linck

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile et al. · The American Journal of Human Genetics · 1998 · 424 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

K. Michael Gibson, T. Burlingame, Boris M. Hogema et al. · Pediatric Research · 2000 · 96 citations

Life Sciences, Biochemistry, Genetics +13

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

Joseph S. Livingston, Michael G. Brown, Helen J. Lawce et al. · American Journal of Medical Genetics Part A · 2005 · 83 citations

Life Sciences, Genetics, Molecular Genetics +17

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome

Leesa M. Linck, Don S. Lin, Donna P Flavell et al. · American Journal of Medical Genetics · 2000 · 68 citations

Life Sciences, Biochemistry, Pediatrics +17

Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

Robert D. Steiner, Leesa M. Linck, Donna P Flavell et al. · Journal of Lipid Research · 2000 · 57 citations · Full text

Life Sciences, Biochemistry, Enzymology +16