Associated Papers
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
Yaplito-Lee J et al.
Jimd Reports, 2020
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.
Anderson R et al.
Jimd Reports, 2019
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Musleh M et al.
Eye (london, England), 2016
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Gillespie RL et al.
Ophthalmology, 2016
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome.
Ho AC et al.
Jimd Reports, 2014
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