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rus
церебротендинозный холестероз
portuguès
xantomatose cerebrotendinosa
espanyol
enfermedad de van bogaert
Autosomal recessive form of xanthomatosis.
ctx
van bogaert–scherer–epstein syndrome
cholestanol storage disease
cerebrotendinous xanthomatosis; ctx
sterol 27-hydroxylase deficiency
cerebral cholesterinosis
developmental defect during embryogenesis
rare disease
rus
церебротендинозный холестероз
ctx
van bogaert–scherer–epstein syndrome
cholestanol storage disease
cerebrotendinous xanthomatosis; ctx
sterol 27-hydroxylase deficiency
1
Patients' survival after
CTx
was associated with the TS tandem repeat polymorphism.
2
For combined treatment
CTX
was given 15 min prior to heating.
3
High-dose
CTX
contributed to tumor-mass reduction particularly in patients presenting with high-tumor burden.
4
Twenty-two patients, 11 in each arm, received
CTX
as a further line agent.
5
The effect of
CTx
administration was explored with a propensity score matching analysis.
1
The authors summarize the current knowledge about the pathomechanism, laboratory diagnosis and therapeutic options of
cerebrotendinous
xanthomatosis
.
2
Cerebrotendinous
xanthomatosis
is a rare inherited disorder of bile acid metabolism producing xanthomata and severe, progressive neurological deficits.
rus
церебротендинозный холестероз
синдром ван богарта — шерера — эпштейна
холестериновый липидоз
portuguès
xantomatose cerebrotendinosa
espanyol
enfermedad de van bogaert
xantomatosis cerebrotendinosa