Počet záznamov: 1
choroba z mnohopočetného deficitu sulfatáz
SYS d052517 LBL 00000nx--j22000003--45-- 005 20240119200540.0 100 $a 20060705csloy0103----ba0 152 $b mesh 250 $a choroba z mnohopočetného deficitu sulfatáz $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 2007; use SPHINGOLIPIDOSES 2000-2006 $8 eng 300 1-
$a Sulfatases (1973-2006) $8 eng 330 1-
$a An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid. $8 eng 450 $a choroba z multiplicitného deficitu sulfatáz $5 e $8 slo 450 $a choroba z mnohopočetného nedostatku sulfatáz $5 e $8 slo 450 $a choroba z multiplicitného nedostatku sulfatáz $5 e $8 slo 686 $a C10.228.140.163.100.435.825.850.750 686 $a C16.320.565.189.435.825.850.750 686 $a C16.320.565.398.641.803.925.750 686 $a C16.320.565.595.554.825.850.750 686 $a C18.452.132.100.435.825.850.750 686 $a C18.452.584.563.641.803.925.750 686 $a C18.452.648.189.435.825.850.750 686 $a C18.452.648.398.641.803.925.750 686 $a C18.452.648.595.554.825.850.750 750 $a Multiple Sulfatase Deficiency Disease $8 eng 801 -0
$a US $b DNLM $c 20060705 801 -2
$a SK $b BA006 $c 20070309 980 $x M
Počet záznamov: 1