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