Počet záznamov: 1
mukopolysacharidóza I
SYS d008059 LBL 00000cx--j22000003--45-- 005 20240119201301.4 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$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; $8 eng 330 1-
$a Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. $8 eng 450 $a Hurler's Syndrome $5 e $8 eng 450 $a Hurler-Scheie Syndrome $5 e $8 eng 450 $a Lipochondrodystrophy $5 e $8 eng 450 $a Mucopolysaccharidosis V $5 e $8 eng 450 $a Pfaundler-Hurler Syndrome $5 e $8 eng 450 $a Scheie's Syndrome $5 e $8 eng 450 $a morbus Hurler-Scheie $5 e $8 slo 450 $a Pfaundlerov-Hurlerovej syndróm $5 e $8 slo 450 $a Hurlerovej syndróm $5 e $8 slo 450 $a Scheieho syndróm $5 e $8 slo 450 $a mukopolysacharidóza V $5 e $8 slo 450 $a lipochondrodystrofia $5 e $8 slo 450 $a Hurlerovej-Scheieho syndróm $5 e $8 slo 550 $3 sllk_un_auth*d007068 $Y Iduronidase $5 B $a iduronidáza 550 $3 sllk_un_auth*d007068 $Y Iduronidase $5 F $a iduronidáza 550 $3 sllk_un_auth*d016532 $Y Mucopolysaccharidosis II $5 F $a mukopolysacharidóza II 550 $3 sllk_un_auth*d016532 $Y Mucopolysaccharidosis II $5 B $a mukopolysacharidóza II 686 $a C16.320.565.202.715.640 686 $a C16.320.565.595.600.640 686 $a C17.300.550.575.640 686 $a C18.452.648.202.715.640 686 $a C18.452.648.595.600.640 750 $a Mucopolysaccharidosis I $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20020319 980 $x M
Počet záznamov: 1