Počet záznamov: 1
degenerácia hepatolentikulárna
SYS d006527 LBL 00000nx--j22000003--45-- 005 20240119201017.1 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a degenerácia hepatolentikulárna $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 1964(1963) $8 eng 330 1-
$a A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. $8 eng 450 $a Cerebral Pseudosclerosis $5 e $8 eng 450 $a Neurohepatic Degeneration $5 e $8 eng 450 $a Pseudosclerosis $5 e $8 eng 450 $a Wilson Disease $5 e $8 eng 450 $a Wilsonova choroba $5 e $8 slo 450 $a pseudoskleróza cerebrálna $5 e $8 slo 450 $a degenerácia neurohepatická $5 e $8 slo 450 $a pseudoskleróza $5 e $8 slo 550 $3 sllk_un_auth*d000073840 $Y Copper-Transporting ATPases $5 B $a ATPázy transportujúce meď 550 $3 sllk_un_auth*d000073840 $Y Copper-Transporting ATPases $5 F $a ATPázy transportujúce meď 675 $a 616-008.9-056.7 675 $a 546.56 686 $a C06.552.413 686 $a C10.228.140.079.493 686 $a C10.228.140.163.100.360 686 $a C10.228.662.400 686 $a C10.574.500.487 686 $a C16.320.400.361 686 $a C16.320.565.189.360 686 $a C16.320.565.618.403 686 $a C18.452.132.100.360 686 $a C18.452.648.189.360 686 $a C18.452.648.618.403 750 $a Hepatolenticular Degeneration $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010109 801 -2
$a SK $b BA006 $c 20180710 820 $a lenticular refers to the lenticular nucleus in the brain $8 eng 980 $x M
Počet záznamov: 1