Počet záznamov: 1
mukopolysacharidóza II
SYS d016532 LBL 00000cx--j2200000---45-- 005 20240119201301.4 100 $a 19920621asloy0103----ba0 152 $b mesh 250 $a mukopolysacharidóza II $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 1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME use LIPOCHONDRODYSTROPHY 1976-1991 $8 eng 300 1-
$a Mucopolysaccharidosis I (1966-1991) $8 eng 330 1-
$a Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. $8 eng 450 $a Gargoylism, Hunter Syndrome $5 e $8 eng 450 $a Hunter's Syndrome $5 e $8 eng 450 $a Iduronate 2-Sulfatase Deficiency $5 e $8 eng 450 $a Iduronate Sulfatase Deficiency $5 e $8 eng 450 $a Sulfoiduronate Sulfatase Deficiency $5 e $8 eng 450 $a gargoylizmus, Hunterov syndróm $5 e $8 slo 450 $a Hunterov syndróm $5 e $8 slo 450 $a deficit iduronát sulfatázy $5 e $8 slo 450 $a deficit iduronát-2-sulfatázy $5 e $8 slo 450 $a deficit sulfoiduronát sulfatázy $5 e $8 slo 550 $3 sllk_un_auth*d007066 $Y Iduronate Sulfatase $5 B $a iduronátsulfatáza 550 $3 sllk_un_auth*d008059 $Y Mucopolysaccharidosis I $5 B $a mukopolysacharidóza I 550 $3 sllk_un_auth*d007066 $Y Iduronate Sulfatase $5 F $a iduronátsulfatáza 550 $3 sllk_un_auth*d008059 $Y Mucopolysaccharidosis I $5 F $a mukopolysacharidóza I 686 $a C10.597.606.360.455.750 686 $a C16.320.322.500.750 686 $a C16.320.400.525.750 686 $a C16.320.565.202.715.645 686 $a C16.320.565.595.600.645 686 $a C17.300.550.575.645 686 $a C18.452.648.202.715.645 686 $a C18.452.648.595.600.645 750 $a Mucopolysaccharidosis II $8 eng 801 -0
$a US $b DNLM $c 19920621 801 -2
$a SK $b BA006 $c 20020408 801 -2
$a SK $b BA006 $c 20101221 980 $x M
Počet záznamov: 1