Počet záznamov: 1
leukodystrofia metachromatická
SYS d007966 LBL 00000cx--j22000003--45-- 005 20240119201041.1 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a leukodystrofia metachromatická $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 1974 $8 eng 330 1-
$a An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. $8 eng 450 $a Arylsulfatase A Deficiency Disease $5 e $8 eng 450 $a Cerebroside Sulphatase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu arylsulfatázy A $5 e $8 slo 450 $a choroba z deficitu cerebrozidsulfatázy $5 e $8 slo 550 $3 sllk_un_auth*d002553 $Y Cerebroside-Sulfatase $5 B $a cerebrozidsulfatáza 550 $3 sllk_un_auth*d002553 $Y Cerebroside-Sulfatase $5 F $a cerebrozidsulfatáza 686 $a C10.228.140.163.100.362.550 686 $a C10.228.140.163.100.435.825.850.500 686 $a C10.228.140.695.625.550 686 $a C10.314.400.550 686 $a C16.320.565.189.362.550 686 $a C16.320.565.189.435.825.850.500 686 $a C16.320.565.398.641.803.925.500 686 $a C16.320.565.595.554.825.850.500 686 $a C18.452.132.100.362.550 686 $a C18.452.132.100.435.825.850.500 686 $a C18.452.584.563.641.803.925.500 686 $a C18.452.648.189.362.550 686 $a C18.452.648.189.435.825.850.500 686 $a C18.452.648.398.641.803.925.500 686 $a C18.452.648.595.554.825.850.500 750 $a Leukodystrophy, Metachromatic $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070131 980 $x M
Počet záznamov: 1