Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2021.05.004
Abstract: Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting… read more here.
Keywords: lemli opitz; sitosterolemia; cholesterol; smith lemli ... See more keywords
Acute Coronary Syndrome Developed in a 17-year-old boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.
Sign Up to like & getrecommendations! Published in 2021 at "Internal medicine"
DOI: 10.2169/internalmedicine.8288-21
Abstract: A 17-year-old boy with acute coronary syndrome was admitted to our hospital. He had xanthomas over his elbow and Achilles tendon and a high level of low-density lipoprotein cholesterol; therefore, his initial diagnosis was familial… read more here.
Keywords: sitosterolemia; old boy; acute coronary; year old ... See more keywords
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
Sign Up to like & getrecommendations! Published in 2017 at "Annals of hepatology"
DOI: 10.5604/01.3001.0010.5290
Abstract: Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not… read more here.
Keywords: sitosterolemia; cirrhosis; disease; cryptogenic cirrhosis ... See more keywords