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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

Related topics

Related topics

21 relations
AcanthocytesAutosomal recessive inheritanceBilobate gallbladderBlepharoptosis

Broader (2)

Oxidoreductases Acting on CH-CH Group DonorsSteroid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Dismetabolic Cataracts: Clinicopathologic Overview and Surgical Management with B-MICS Technique
Background: Dismetabolic cataract is a loss of lens transparency due to an insult to the nuclear or lenticular fibers, caused by… 
2013
2013
SMITH-LEMLI-OPITZ syndrome, caused by deficiency in the last step of cholesterol biosynthesis: The bristol UKGTN DHCR7 mutation service
2010
2010
PA69 LIVER TRANSPLANT IN A PATIENT WITH LATHOSTEROLOSIS, A DEFECT OF THE CHOLESTEROL BIOSYNTESIS
2009
2009
Cataract Development in a Young Patient with Lathosterolosis: A Clinicopathologic Case Report
Purpose To report a unique case of cataract in a young patient with lathosterolosis, a singular defect of cholesterol… 
Review
2005
Review
2005
Characterization of liver involvement in defects of cholesterol biosynthesis: Long‐term follow‐up and review
Inborn defects of cholesterol biosynthesis are a group of metabolic disorders presenting with mental retardation and multiple… 
Review
2004
Review
2004
Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726
Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726 
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