Počet záznamov: 1
poruchy peroxizómové
SYS d018901 LBL 00000cy--a2200000o--4500 005 20250606213455.1 008 941227|-|anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.663 065 $a C18.452.648.663 066 $a 01 $c 03 150 $a poruchy peroxizómové $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 Adrenoleukodystrophy, Neonatal $2 eng 450 $w v $a Hyperpipecolic Acidemia $2 eng 450 $w v $a adrenoleukodystrofia novorodenecká $2 slo 450 $w v $a adrenoleukodystrofia kongenitálna $2 slo 450 $w v $a acidémia hyperpipekolická $2 slo 450 $w v $a acidémia spôsobená kyselinou pipekolovou $2 slo 550 $7 sllk_us_auth*d020675 $Y Peroxisomes $w b $a peroxizómy 665 $a 1996 $2 eng 665 $a Lipid Metabolism, Inborn Errors (1988-1995) $2 eng 665 $a Metabolism, Inborn Errors (1988-1995) $2 eng 680 9-
$i A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. $2 eng 680 $a general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY $2 eng 750 $a Peroxisomal Disorders $2 eng 980 $x M
Počet záznamov: 1