Associated Papers
DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.
Kose CC et al.
Journal of Clinical Lipidology, 2025
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D et al.
Frontiers in Genetics, 2023
Desmosterolosis presenting with multiple congenital anomalies.
Rohanizadegan M et al.
European Journal of Medical Genetics, 2018
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
Dias C et al.
Orphanet Journal of Rare Diseases, 2014
From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.
Pinto JT et al.
Advances in Nutrition (bethesda, Md.), 2014
Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.
Luu W et al.
Journal of Lipid Research, 2014
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Schaaf CP et al.
American Journal of Medical Genetics. Part A, 2011
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