Robert Steiner Laboratory

People:

• PI: Steiner, Robert D., M.D.
  

Member: Merkens, Louise S., PhD
Role: Research Assistant Professor

Resources:

Biological Specimens

• Plasma from patients with Smith-Lemli-Opitz syndrome ( Biological Specimen )
  

Instruments

• Agilent 6890N gas chromatograph ( Flame ionization detector )
  

  Both detectors associated with the gas chromatograph methods developed to quantitate cholesterol, cholestanol, lathosterol, desmosterol and sitosterol.

Reagents

• Fibroblasts from Smith-Lemli-Opitz syndrome patients ( Primary fibroblast cell line )
  

  Frozen vials of primary skin fibroblasts from patients with a wide range of severity of Smith-Lemli-Opitz syndrome (SLOS).