Desmosterolosis
National Institutes of Health
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As a major component of the cell membrane of most eukaryotic cells, cholesterol assumes crucial roles in myelination of the…
Desmosterolosis is an autosomal recessive disorder with severe developmental anomalies due to mutations in the DHCR24 gene…
INTRODUCTION: The DHCR24 gene encodes an enzyme that converts desmosterol to cholesterol in the last step of cholesterol…
of the Jarcho-Levin syndrome (JLS) during the second trimester of pregnancy in a family with no previous medical history. In our…
Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726
As a structural component of mammalian cell membranes, cholesterol is essential for increasing the rigidity of the lipid bilayer…
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Desmosterolosis is a rare, autosomal recessive, human disease characterized by multiple congenital anomalies in conjunction with…