相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey
Huban Atilla et al.
JOURNAL OF AAPOS (2021)
Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts
Sharon F. Freedman et al.
JAMA OPHTHALMOLOGY (2019)
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M. L. Stelten et al.
NEUROLOGY (2019)
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
Monica Gelzo et al.
LIPIDS IN HEALTH AND DISEASE (2019)
Christmas tree cataract and myotonic dystrophy type 1
Dionysios Pagoulatos et al.
EYE (2018)
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts
Sapna Tibrewal et al.
JOURNAL OF AAPOS (2017)
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Gerald Salen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach
M. Musleh et al.
EYE (2016)
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Rachel L. Gillespie et al.
OPHTHALMOLOGY (2016)
Biomarkers of cholesterol homeostasis in a clinical laboratory database sample comprising 667,718 patients
Thomas D. Dayspring et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2015)
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
Andrea Mignarri et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Pediatric genetic disorders of lens
Bharti R. Nihalani
JOURNAL OF PEDIATRIC GENETICS (2014)
Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid: Early Versus Late Diagnosis
Gilad Yahalom et al.
CLINICAL NEUROPHARMACOLOGY (2013)
Contribution of Cholesterol and Oxysterols in the Physiopathology of Cataract: Implication for the Development of Pharmacological Treatments
Anne Vejux et al.
JOURNAL OF OPHTHALMOLOGY (2011)