Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of 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

Genetic Inactivation of an Inwardly Rectifying Potassium Channel (Kir4.1 Subunit) in Mice: Phenotypic Impact in Retina

Paulo Kofuji, Paul W. Ceelen, Kathleen R. Zahs et al. · Journal of Neuroscience · 2000 · 456 citations · Full text

Medicine, Cell Biology, Ophthalmology +17

Uptake of cholesterol by the retina occurs primarily via a low density lipoprotein receptor-mediated process.

Nomingerel Tserentsoodol, Jorge Sztein, Mercedes Campos et al. · PubMed · 2006 · 183 citations

Life Sciences, Biochemistry, Ophthalmology +17

Retinal light damage: Practical and theoretical considerations

Daniel T. Organisciak, Barry S. Winkler · Progress in Retinal and Eye Research · 1994 · 155 citations

Health Professions, Ophthalmology, Vision Science +14