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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… Expand
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2014
2014
Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5… Expand
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2014
2014
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol… Expand
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2013
2013
Sterols are crucial lipid components that regulate membrane permeability and fluidity and are the precursors of bioactive… Expand
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2010
2010
Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7… Expand
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2009
2009
Purpose To report a unique case of cataract in a young patient with lathosterolosis, a singular defect of cholesterol… Expand
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2007
2007
Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol‐C5‐desaturase. Only two… Expand
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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
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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
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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
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