Desmosterolosis: a new inborn error of cholesterol biosynthesis.
Clayton
P
P
Mills
K
K
Keeling
J
J
FitzPatrick
D
D
D000015:Abnormalities, Multiple; D002784:Cholesterol / Q000096:biosynthesis*; D003897:Desmosterol / Q000032:analysis; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors; D013577:Syndrome; D014018:Tissue Distribution
D003897:Desmosterol; D002784:Cholesterol