Počet záznamov: 1
cystinóza
SYS d003554 LBL 00000nx--j22000003--45-- 005 20240119195555.6 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $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 $8 slo 330 1-
$a 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. $8 eng 686 $a C16.320.565.595.377 686 $a C18.452.648.595.377 750 $a Cystinosis $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 980 $x M
Počet záznamov: 1