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Lathosterolosis

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

Papers overview

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2019
2019
Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings… 
2014
2014
Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5… 
2014
2014
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol… 
Highly Cited
2013
Highly Cited
2013
Sterols are crucial lipid components that regulate membrane permeability and fluidity and are the precursors of bioactive… 
2009
2009
Purpose To report a unique case of cataract in a young patient with lathosterolosis, a singular defect of cholesterol… 
2007
2007
Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol‐C5‐desaturase. Only two… 
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… 
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… 
Highly Cited
2002
Highly Cited
2002
We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis… 
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…