Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
James A. Cooper, Heather J. Church, Hoi-Yee Wu
Topics & Concepts
OxysterolTriolSmith–Lemli–Opitz syndromeBiomarkerMedicineInternal medicineCholesterolDiseaseGastroenterologyEndocrinologyPathologyChemistryBiochemistryEnzymeReductaseOrganic chemistry7-Dehydrocholesterol reductaseDiolLysosomal Storage Disorders ResearchCarbohydrate Chemistry and SynthesisTrypanosoma species research and implications