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
Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.
Luu W et al.
Journal of Lipid Research, 2014
Gender dependent effect of DHCR24 polymorphism on the risk for Alzheimer's disease.
Fehér A et al.
Neuroscience Letters, 2012
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease.
Tedde A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008
Malformation syndromes due to inborn errors of cholesterol synthesis.
Porter FD
The Journal of Clinical Investigation, 2002
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Waterham HR et al.
American Journal of Human Genetics, 2001
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