Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Lathosterolosis

Known as: Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase, SC5D DEFICIENCY, Sterol C5-Desaturase Deficiency 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings… Expand
  • table 2
  • table 3
2014
2014
Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5… Expand
  • table 1
  • table 2
  • table 3
2014
2014
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol… Expand
2010
2010
Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7… Expand
  • figure 1
  • table I
  • figure 2
  • figure 3
  • figure 4
2007
2007
Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol‐C5‐desaturase. Only two… Expand
Highly Cited
2003
Highly Cited
2003
Lathosterol 5-desaturase catalyzes the conversion of lathosterol to 7-dehydrocholesterol in the next to last step of cholesterol… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Review
2003
Review
2003
  • F. Porter
  • Current opinion in pediatrics
  • 2003
  • Corpus ID: 10791354
PURPOSE OF REVIEW This review covers a group of human malformation syndromes, which are caused by inborn errors of cholesterol… Expand
Highly Cited
2002
Highly Cited
2002
We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis… Expand
Review
2002
Review
2002
  • F. Porter
  • The Journal of clinical investigation
  • 2002
  • Corpus ID: 20564248
Cholesterol has long been known to function as both a structural lipid and a precursor molecule for bile acid and steroid hormone… Expand
  • figure 1
  • table 1
  • figure 2