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porfýria erytropoetická
SYS d017092 LBL 00000cz--a2200000n--4500 005 20250606213024.1 008 920522|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 $d BA006 065 $a C16.320.850.738 065 $a C17.800.827.738 065 $a C18.452.811.250 066 $a 01 $c 03 150 $a porfýria erytropoetická $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 Deficiency of Uroporphyrinogen III Synthase $2 eng 450 $w v $a Erythropoietic Porphyria $2 eng 450 $w v $a Gunther's Disease $2 eng 450 $w v $a Porphyria, Erythropoietic, Congenital $2 eng 450 $w v $a Uroporphyrinogen III Synthase, Deficiency of $2 eng 450 $w v $a porfýria erytropoetická vrodená $2 slo 450 $w v $a porfýria erytropoetická kongenitálna $2 slo 450 $w v $a Güntherova choroba $2 slo 450 $w v $a deficit uroporfyrinogén III syntázy $2 slo 550 $7 sllk_us_auth*d014576 $Y Uroporphyrinogen III Synthetase $w b $a uroporfyrinogén-III-syntetáza 550 $7 sllk_us_auth*d014576 $Y Uroporphyrinogen III Synthetase $w p $a uroporfyrinogén-III-syntetáza 665 $a 1993 $2 eng 665 $a Porphyria (1966-1992) $2 eng 680 9-
$i An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. $2 eng 680 $a do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC $2 eng 750 -2
$a Porphyria, Erythropoietic $2 eng 980 $x M
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