検索ワード: cerebrotendinous xanthomatosis (英語 - ポルトガル語)

cerebrotendinous xanthomatosis
xantomatose cerebrotendinosa

ctx - cerebrotendinous xanthomatosis
xantomatose cerebrotendinosa

cerebrotendinous xanthomatosis syndrome
colesterose cerebrotendinosa

cerebrotendinous xanthomatosis (diagnosis)
colesterose cerebrotendinosa

xanthomatosis
xantomatose

cerebrotendinous cholesterinos
colesterose cerebrotendinosa

xanthomatosis, cerebrotendinous
xantomatose cerebrotendinosa

xanthomatosis, cerebrotendinous [disease/finding]
colesterose cerebrotendinosa

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).

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.