Počet záznamov: 1
sfingolipidózy
SYS d013106 LBL 00000cz--a2200000o--4500 005 20250606214108.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.435.825 065 $a C16.320.565.189.435.825 065 $a C16.320.565.398.641.803 065 $a C16.320.565.595.554.825 065 $a C18.452.132.100.435.825 065 $a C18.452.584.563.641.803 065 $a C18.452.648.189.435.825 065 $a C18.452.648.398.641.803 065 $a C18.452.648.595.554.825 066 $a 01 $c 03 150 $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 $2 slo 665 $a 1992(1974) $2 eng 680 9-
$i 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. $2 eng 680 $a general or unspecified; prefer specifics $2 eng 750 -2
$a Sphingolipidoses $2 eng 980 $x M
Počet záznamov: 1