Počet záznamov: 1
cystinóza
SYS d003554 LBL 00000nz--a2200000o--4500 005 20250606214503.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.595.377 065 $a C18.452.648.595.377 066 $a 01 $c 03 150 $a cystinóza $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 680 9-
$i A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. $2 eng 750 -2
$a Cystinosis $2 eng 980 $x M
Počet záznamov: 1