Počet záznamov: 1
deficit syntetázy holokarboxylázy
SYS d028922 LBL 00000nz--a2200000o--4500 005 20250606212945.8 008 010725|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.100.620.380 065 $a C16.320.565.202.720.380 065 $a C18.452.648.100.620.380 065 $a C18.452.648.202.720.380 066 $a 01 $c 03 150 $a deficit syntetázy holokarboxylázy $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, Neonatal Form $2 eng 450 $w v $a Multiple Carboxylase Deficiency, Neonatal Form $2 eng 450 $w v $a nedostatok syntetázy holokarboxylázy $2 slo 450 $w v $a deficit holokarboxylázasyntetázy $2 slo 450 $w v $a nedostatok holokarboxylázasyntetázy $2 slo 450 $w v $a deficit karboxylázy, mnohopočetný, novorodenecká forma $2 slo 450 $w v $a deficit karboxylázy, mnohopočetný, infantilná forma $2 slo 450 $w v $a nedostatok karboxylázy, mnohopočetný, novorodenecká forma $2 slo 450 $w v $a nedostatok karboxylázy, mnohopočetný, infantilná forma $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 665 $a 2002 $2 eng 680 9-
$i The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase). $2 eng 750 -2
$a Holocarboxylase Synthetase Deficiency $2 eng 980 $x M
Počet záznamov: 1