Richard Kelley

All articles by Richard Kelley

Disorders of sterol synthesis

Overview: What every practitioner needs to know Are you sure your patient has a disorder of sterol synthesis? What are the typical findings for this disease? Smith-Lemli-Opitz syndrome Because patients with SLOS can present with a range of clinical severity—from almost normal children with mild developmental delays to intrauterine lethality from multiple organ malformations—a high…

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