226 top medical experts on Smith-Lemli-Opitz Syndrome across 29 countries and 25 U.S. states, including 72 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of cholesterol metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and intellectual disability.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Dyslipidemias (4,591), Inborn Errors Lipid Metabolism (797), Inborn Errors Steroid Metabolism (385), Multiple Abnormalities (3,208).
- Clinical Trials : at least 14 including 1 Active, 6 Completed, 2 Recruiting
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