Number of the records: 1
deficit karboxylázy, mnohopočetný
SYS d009100 LBL 00000cz--a2200000o--4500 005 20250606213825.4 008 920418|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.100.620 065 $a C16.320.565.202.720 065 $a C18.452.648.100.620 065 $a C18.452.648.202.720 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Carboxylase Deficiency, Multiple $2 eng 450 $w v $a Combined Carboxylase Deficiency $2 eng 450 $w v $a deficit karboxylázový mnohopočetný $2 slo 450 $w v $a deficit karboxylázy, kombinovaný $2 slo 450 $w v $a deficit karboxylázový kombinovaný $2 slo 550 $7 sllk_us_auth*d001710 $Y Biotin $w b $a biotín 550 $7 sllk_us_auth*d001710 $Y Biotin $w p $a biotín 550 $7 sllk_us_auth*d043523 $Y Biotinidase $w b $a biotinidáza 665 $a 87 $2 eng 665 $a specific enzyme (1966-1974) $2 eng 665 $a specific enzyme/deficiency (1975-1986) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Multiple Carboxylase Deficiency $2 eng 980 $x M
Number of the records: 1