Počet záznamov: 1
Fabryho choroba
SYS d000795 LBL 00000cx--j2200000---45-- 005 20240119200906.2 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a Fabryho choroba $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 1999(1973) $8 eng 300 1-
$a Angiokeratoma (1966-1972) $8 eng 330 1-
$a An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. $8 eng 450 $a Anderson-Fabry Disease $5 e $8 eng 450 $a Angiokeratoma Corporis Diffusum $5 e $8 eng 450 $a Andersonova-Fabryho choroba $5 e $8 slo 450 $a angiokeratoma corporis diffusum $5 e $8 slo 450 $a deficit alfa-galaktozidázy A $5 e $8 slo 450 $a lipidóza dystopická hereditárna $5 e $8 slo 550 $3 sllk_un_auth*d000519 $Y alpha-Galactosidase $5 B $a alfa-galaktozidáza 550 $3 sllk_un_auth*d002518 $Y Ceramides $5 F $a ceramidy 550 $3 sllk_un_auth*d000519 $Y alpha-Galactosidase $5 F $a alfa-galaktozidáza 550 $3 sllk_un_auth*d002518 $Y Ceramides $5 B $a ceramidy 686 $a C10.228.140.163.100.435.825.200 686 $a C10.228.140.300.275.374 686 $a C14.907.253.329.374 686 $a C16.320.322.124 686 $a C16.320.565.189.435.825.200 686 $a C16.320.565.398.641.803.300 686 $a C16.320.565.595.554.825.200 686 $a C18.452.132.100.435.825.200 686 $a C18.452.584.563.641.803.300 686 $a C18.452.648.189.435.825.200 686 $a C18.452.648.398.641.803.300 686 $a C18.452.648.595.554.825.200 750 $a Fabry Disease $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20000724 801 -2
$a SK $b BA006 $c 20141029 820 $a do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE $8 eng 980 $x M
Počet záznamov: 1