Počet záznamov: 1
deficit dihydropyrimidíndehydrogenázy
SYS d054067 LBL 00000nx--j2200000---45-- 005 20240119200555.8 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a deficit dihydropyrimidíndehydrogenázy $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2008 $8 eng 300 1-
$a Dihydrouracil Dehydrogenase (NADP) (1984-2007) $8 eng 330 1-
$a An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. $8 eng 686 $a C16.320.565.798.183 686 $a C18.452.648.798.183 750 $a Dihydropyrimidine Dehydrogenase Deficiency $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1