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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
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
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
Zolotushko J et al.
European Journal of Human Genetics : Ejhg, 2011
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