A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC–FID to diagnose the Smith–Lemli–Opitz syndrome

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

Life Sciences, Genetics, Pediatrics +15

A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

Medicine, Obstetrics, Pediatrics +9

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

Molecular cloning and expression of the human Δ7-sterol reductase

Fabian F. Moebius, Barbara U. Fitzky, Joon No Lee et al. · Proceedings of the National Academy of Sciences · 1998 · 220 citations

Life Sciences, Biochemistry, Molecular Biology +17

Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

Kristina Anna Strnadová, Margareta Holub, Adolf Mühl et al. · Clinical Chemistry · 2007 · 88 citations · Full text

Life Sciences, Biochemistry, Nutrition +13