Počet záznamov: 1
sfingolipidózy
SYS d013106 LBL 00000cx--j22000003--45-- 005 20240119200009.5 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a sfingolipidózy $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 300 1-
$a 1992(1974) $8 eng 330 1-
$a A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. $8 eng 686 $a C10.228.140.163.100.435.825 686 $a C16.320.565.189.435.825 686 $a C16.320.565.398.641.803 686 $a C16.320.565.595.554.825 686 $a C18.452.132.100.435.825 686 $a C18.452.584.563.641.803 686 $a C18.452.648.189.435.825 686 $a C18.452.648.398.641.803 686 $a C18.452.648.595.554.825 750 $a Sphingolipidoses $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070309 820 $a general or unspecified; prefer specifics $8 eng 980 $x M
Počet záznamov: 1