Number of the records: 1
deficit dihydropyrimidíndehydrogenázy
SYS d054067 LBL 00000nz--a2200000n--4500 005 20250606220725.8 008 080101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 065 $a C16.320.565.798.183 065 $a C18.452.648.798.183 066 $a 01 $c 03 150 $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 $2 slo 665 $a 2008 $2 eng 665 $a Dihydrouracil Dehydrogenase (NADP) (1984-2007) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Dihydropyrimidine Dehydrogenase Deficiency $2 eng 980 $x M
Number of the records: 1