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Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019
See this aricle in Pubmed
Article Abstract
Treatment start at an early age can reverse and even prevent the development of neurologic symptoms in CTX. This study emphasizes the importance of early diagnosis in CTX and provides a rationale to include CTX in newborn screening programs.
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cerebrotendinous xanthomatosis
chenodeoxycholic acid
children
delay in diagnosis
disability,neurological
misdiagnosis
prevention of neurologic disorders
prognosis
reversible neurologic disorder
screening
treatment of neurologic disorder
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