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cerebrotendinous xanthomatosis
xantomatose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 13
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ctx - cerebrotendinous xanthomatosis
xantomatose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 2
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cerebrotendinous xanthomatosis syndrome
colesterose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 1
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cerebrotendinous xanthomatosis (diagnosis)
colesterose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 1
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xanthomatosis
xantomatose
Last Update: 2014-12-09
Usage Frequency: 21
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cerebrotendinous cholesterinos
colesterose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 1
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xanthomatosis, cerebrotendinous
xantomatose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 3
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xanthomatosis, cerebrotendinous [disease/finding]
colesterose cerebrotendinosa
Last Update: 2014-12-09
Usage Frequency: 1
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of these 41 patients, 29 presented with disorders in primary bile acid synthesis including sterol 27-hydroxylase (presenting as cerebrotendinous xanthomatosis, ctx) deficiency (n=4).
destes 41 doentes, 29 apresentavam distúrbios da síntese do ácido biliar primário, incluindo: deficiência em esterol 27-hidroxilase (sob a forma de xantomatose cerebrotendinosa, ctx) (n=4).
Last Update: 2017-04-26
Usage Frequency: 1
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kolbam is indicated for the treatment of inborn errors in primary bile acid synthesis due to sterol 27- hydroxylase (presenting as cerebrotendinous xanthomatosis, ctx) deficiency, 2- (or -) methylacyl- coa racemase (amacr) deficiency or cholesterol 7-hydroxylase (cyp7a1) deficiency in infants, children and adolescents aged 1 month to 18 years and adults.
o kolbam é indicado para o tratamento de erros congénitos da síntese do ácido biliar primário devido a deficiência em esterol 27-hidroxilase (sob a forma de xantomatose cerebrotendinosa, ctx), deficiência em 2- (ou -) metilacil-coa racemase (amacr), deficiência em colesterol 7- hidroxilase (cyp7a1) em bebés, crianças e adolescentes com idades entre 1 mês e 18 anos e em adultos.
Last Update: 2017-04-26
Usage Frequency: 2
Quality: