Number of the records: 1
leukodystrofia metachromatická
SYS d007966 LBL 00000cz--a2200000o--4500 005 20250606213034.2 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.362.550 065 $a C10.228.140.163.100.435.825.850.500 065 $a C10.228.140.695.625.550 065 $a C10.314.400.550 065 $a C16.320.565.189.362.550 065 $a C16.320.565.189.435.825.850.500 065 $a C16.320.565.398.641.803.925.500 065 $a C16.320.565.595.554.825.850.500 065 $a C18.452.132.100.362.550 065 $a C18.452.132.100.435.825.850.500 065 $a C18.452.584.563.641.803.925.500 065 $a C18.452.648.189.362.550 065 $a C18.452.648.189.435.825.850.500 065 $a C18.452.648.398.641.803.925.500 065 $a C18.452.648.595.554.825.850.500 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Arylsulfatase A Deficiency Disease $2 eng 450 $w v $a Cerebroside Sulphatase Deficiency Disease $2 eng 450 $w v $a choroba z deficitu arylsulfatázy A $2 slo 450 $w v $a choroba z deficitu cerebrozidsulfatázy $2 slo 550 $7 sllk_us_auth*d002553 $Y Cerebroside-Sulfatase $w b $a cerebrozidsulfatáza 550 $7 sllk_us_auth*d002553 $Y Cerebroside-Sulfatase $w p $a cerebrozidsulfatáza 665 $a 1974 $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Leukodystrophy, Metachromatic $2 eng 980 $x M
Number of the records: 1