Počet záznamov: 1
koproporfýria dedičná
SYS d046349 LBL 00000nx--j22000003--45-- 005 20240119200459.4 100 $a 20040707csloy0103----ba0 152 $b mesh 250 $a koproporfýria dedičná $x BL $x CF $x CI $x CL $x CN $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 2005; use PORPHYRIA, HEPATIC 1993-2004 $8 eng 300 1-
$a Porphyria (1965-2004) $8 eng 300 1-
$a Porphyria, Hepatic (1993-2004) $8 eng 330 1-
$a An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS. $8 eng 686 $a C06.552.830.074 686 $a C16.320.850.742.074 686 $a C17.800.827.742.074 686 $a C18.452.811.400.074 750 $a Coproporphyria, Hereditary $8 eng 801 -0
$a US $b DNLM $c 20040707 801 -2
$a SK $b BA006 $c 20050314 980 $x M
Počet záznamov: 1