Number of the records: 1
deficit karboxylázy, mnohopočetný
SYS d009100 LBL 00000cx--j22000003--45-- 005 20240119201431.5 100 $a 19920418csloy0103----ba0 152 $b mesh 250 $a deficit karboxylázy, mnohopočetný $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 87 $8 eng 300 1-
$a specific enzyme (1966-1974) $8 eng 300 1-
$a specific enzyme/deficiency (1975-1986) $8 eng 330 1-
$a A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. $8 eng 450 $a Carboxylase Deficiency, Multiple $5 e $8 eng 450 $a Combined Carboxylase Deficiency $5 e $8 eng 450 $a deficit karboxylázový mnohopočetný $5 e $8 slo 450 $a deficit karboxylázy, kombinovaný $5 e $8 slo 450 $a deficit karboxylázový kombinovaný $5 e $8 slo 550 $3 sllk_un_auth*d001710 $Y Biotin $5 B $a biotín 550 $3 sllk_un_auth*d001710 $Y Biotin $5 F $a biotín 550 $3 sllk_un_auth*d043523 $Y Biotinidase $5 B $a biotinidáza 686 $a C16.320.565.100.620 686 $a C16.320.565.202.720 686 $a C18.452.648.100.620 686 $a C18.452.648.202.720 750 $a Multiple Carboxylase Deficiency $8 eng 801 -0
$a US $b DNLM $c 19920418 801 -2
$a SK $b BA006 $c 20020506 980 $x M
Number of the records: 1