Number of the records: 1
Fabryho choroba
SYS d000795 LBL 00000cz--a2200000n--4500 005 20250606213454.4 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.435.825.200 065 $a C10.228.140.300.275.374 065 $a C14.907.253.329.374 065 $a C16.320.322.124 065 $a C16.320.565.189.435.825.200 065 $a C16.320.565.398.641.803.300 065 $a C16.320.565.595.554.825.200 065 $a C18.452.132.100.435.825.200 065 $a C18.452.584.563.641.803.300 065 $a C18.452.648.189.435.825.200 065 $a C18.452.648.398.641.803.300 065 $a C18.452.648.595.554.825.200 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Anderson-Fabry Disease $2 eng 450 $w v $a Angiokeratoma Corporis Diffusum $2 eng 450 $w v $a Andersonova-Fabryho choroba $2 slo 450 $w v $a angiokeratoma corporis diffusum $2 slo 450 $w v $a deficit alfa-galaktozidázy A $2 slo 450 $w v $a lipidóza dystopická hereditárna $2 slo 550 $7 sllk_us_auth*d000519 $Y alpha-Galactosidase $w b $a alfa-galaktozidáza 550 $7 sllk_us_auth*d000519 $Y alpha-Galactosidase $w p $a alfa-galaktozidáza 550 $7 sllk_us_auth*d002518 $Y Ceramides $w p $a ceramidy 550 $7 sllk_us_auth*d002518 $Y Ceramides $w b $a ceramidy 665 $a 1999(1973) $2 eng 665 $a Angiokeratoma (1966-1972) $2 eng 680 9-
$i 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. $2 eng 680 $a do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE $2 eng 750 -2
$a Fabry Disease $2 eng 980 $x M
Number of the records: 1