Research communicationDiagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
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Keywords
7-Dehydrocholesterol
Smith-Lemli-Opitz syndrome
Mass spectrometry
Inborn error of metabolism
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Copyright © 1995 Published by Elsevier B.V.