Opitz award paper describes Marshall-Smith syndrome

Direct analysis of filter paper blood sp

Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry

✍ Zimmerman, Paul A.; Hercules, David M.; Naylor, Edwin W. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

In this study, time-of-flight secondary ion mass spectrometry was used to distinguish between blood of normal infants and that of individuals with Smith-Lemli-Opitz (SLO) syndrome. SLO syndrome results in an abnormally low concentration of blood cholesterol and an elevated concentration of 7dehydroc