Number of the records: 1
degenerácia hepatolentikulárna
SYS d006527 LBL 00000nz--a2200000o--4500 005 20250606214548.2 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C06.552.413 065 $a C10.228.140.079.493 065 $a C10.228.140.163.100.360 065 $a C10.228.662.400 065 $a C10.574.500.487 065 $a C16.320.400.361 065 $a C16.320.565.189.360 065 $a C16.320.565.618.403 065 $a C18.452.132.100.360 065 $a C18.452.648.189.360 065 $a C18.452.648.618.403 066 $a 01 $c 03 089 $a 616-008.9-056.7 089 $a 546.56 150 $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 $2 slo 450 $w v $a Cerebral Pseudosclerosis $2 eng 450 $w v $a Neurohepatic Degeneration $2 eng 450 $w v $a Pseudosclerosis $2 eng 450 $w v $a Wilson Disease $2 eng 450 $w v $a Wilsonova choroba $2 slo 450 $w v $a pseudoskleróza cerebrálna $2 slo 450 $w v $a degenerácia neurohepatická $2 slo 450 $w v $a pseudoskleróza $2 slo 550 $7 sllk_us_auth*d000073840 $Y Copper-Transporting ATPases $w p $a ATPázy transportujúce meď 550 $7 sllk_us_auth*d000073840 $Y Copper-Transporting ATPases $w b $a ATPázy transportujúce meď 665 $a 1964(1963) $2 eng 680 9-
$i 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. $2 eng 680 $a lenticular refers to the lenticular nucleus in the brain $2 eng 750 -2
$a Hepatolenticular Degeneration $2 eng 980 $x M
Number of the records: 1