Počet záznamov: 1
mukopolysacharidóza I
SYS d008059 LBL 00000cz--a2200000n--4500 005 20250606213346.3 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C16.320.565.202.715.640 065 $a C16.320.565.595.600.640 065 $a C17.300.550.575.640 065 $a C18.452.648.202.715.640 065 $a C18.452.648.595.600.640 066 $a 01 $c 03 150 $a mukopolysacharidóza I $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 morbus Hurler-Scheie $2 slo 450 $w v $a Pfaundlerov-Hurlerovej syndróm $2 slo 450 $w v $a Hurlerovej syndróm $2 slo 450 $w v $a Hurlerovej choroba $2 slo 450 $w v $a Scheieho syndróm $2 slo 450 $w v $a mukopolysacharidóza 1 $2 slo 450 $w v $a mukopolysacharidóza 5 $2 slo 450 $w v $a mukopolysacharidóza I-S $2 slo 450 $w v $a mukopolysacharidóza typu I $2 slo 450 $w v $a mukopolysacharidóza typu Ih $2 slo 450 $w v $a mukopolysacharidóza typu Ih S $2 slo 450 $w v $a mukopolysacharidóza typu Is $2 slo 450 $w v $a mukopolysacharidóza V $2 slo 450 $w v $a lipochondrodystrofia $2 slo 450 $w v $a Hurlerovej-Scheieho syndróm $2 slo 450 $w v $a deficit alfa-L-iduronidázy $2 slo 450 $w v $a deficiencia alfa-L-iduronidázy $2 slo 450 $w v $a gargoylizmus $2 slo 550 $7 sllk_us_auth*d007068 $Y Iduronidase $w b $a iduronidáza 550 $7 sllk_us_auth*d007068 $Y Iduronidase $w p $a iduronidáza 550 $7 sllk_us_auth*d016532 $Y Mucopolysaccharidosis II $w p $a mukopolysacharidóza II 550 $7 sllk_us_auth*d016532 $Y Mucopolysaccharidosis II $w b $a mukopolysacharidóza II 665 $a 1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991; $2 eng 680 9-
$i A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders. $2 eng 750 -2
$a Mucopolysaccharidosis I $2 eng 980 $x M
Počet záznamov: 1