Number of the records: 1
deficit cytochróm-c oxidázy
SYS d030401 LBL 00000cx--j2200000---45-- 005 20240119201417.5 100 $a 20010725asloy0103----ba0 152 $b mesh 250 $a deficit cytochróm-c oxidázy $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 2002 $8 eng 300 1-
$a Cytochrome-c Oxidase/deficiency (1976-2001) $8 eng 300 1-
$a Leigh Disease (1997-2001) $8 eng 330 1-
$a A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) $8 eng 450 $a nedostatok cytochróm-c oxidázy $5 e $8 slo 450 $a deficit COX $5 e $8 slo 450 $a deficit mitochondriálneho komplexu IV $5 e $8 slo 550 $3 sllk_un_auth*d003576 $Y Electron Transport Complex IV $5 B $a komplex IV prenášajúci elektróny 550 $3 sllk_un_auth*d007888 $Y Leigh Disease $5 B $a Leighov syndróm 550 $3 sllk_un_auth*d003576 $Y Electron Transport Complex IV $5 F $a komplex IV prenášajúci elektróny 686 $a C16.320.565.240 686 $a C18.452.660.195 750 $a Cytochrome-c Oxidase Deficiency $8 eng 801 -0
$a US $b DNLM $c 20010725 801 -2
$a SK $b BA006 $c 20020607 801 -2
$a SK $b BA006 $c 20140926 980 $x M
Number of the records: 1