Number of the records: 1
porfýria erytropoetická
SYS d017092 LBL 00000cx--j2200000---45-- 005 20240119201308.5 100 $a 19920522asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 1993 $8 eng 300 1-
$a Porphyria (1966-1992) $8 eng 330 1-
$a 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. $8 eng 450 $a Deficiency of Uroporphyrinogen III Synthase $5 e $8 eng 450 $a Erythropoietic Porphyria $5 e $8 eng 450 $a Gunther's Disease $5 e $8 eng 450 $a Porphyria, Erythropoietic, Congenital $5 e $8 eng 450 $a Uroporphyrinogen III Synthase, Deficiency of $5 e $8 eng 450 $a porfýria erytropoetická vrodená $5 e $8 slo 450 $a porfýria erytropoetická kongenitálna $5 e $8 slo 450 $a Güntherova choroba $5 e $8 slo 450 $a deficit uroporfyrinogén III syntázy $5 e $8 slo 550 $3 sllk_un_auth*d014576 $Y Uroporphyrinogen III Synthetase $5 B $a uroporfyrinogén-III-syntetáza 550 $3 sllk_un_auth*d014576 $Y Uroporphyrinogen III Synthetase $5 F $a uroporfyrinogén-III-syntetáza 686 $a C16.320.850.738 686 $a C17.800.827.738 686 $a C18.452.811.250 750 $a Porphyria, Erythropoietic $8 eng 801 -0
$a US $b DNLM $c 19920522 801 -2
$a SK $b BA006 $c 20000530 801 -2
$a SK $b BA006 $c 20091014 801 -2
$a SK $b BA006 $c 20110103 801 -2
$a SK $b BA006 $c 20140114 820 $a do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC $8 eng 980 $x M
Number of the records: 1