Počet záznamov: 1
Leberova hereditárna optická neuropatia
SYS d029242 LBL 00000cx--j2200000---45-- 005 20240119200353.7 100 $a 20010725asloy0103----ba0 152 $b mesh 250 $a Leberova hereditárna optická neuropatia $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; use OPTIC ATROPHIES, HEREDITARY 1999-2001 $8 eng 300 1-
$a Optic Atrophies, Hereditary (1989-2001) $8 eng 300 1-
$a Optic Atrophy/genetics (1977-1988) $8 eng 330 1-
$a A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001)) $8 eng 450 $a Leber Hereditary Optic Atrophy $5 e $8 eng 450 $a Leberova dedičná atrofia zrakového nervu $5 e $8 slo 450 $a Leberova atrofia zrakového nervu, dedičná $5 e $8 slo 450 $a Leberova atrofia zrakového nervu, hereditárna $5 e $8 slo 450 $a neuroretinopatia hereditárna optická $5 e $8 slo 450 $a Leberova hereditárna optická atrofia $5 e $8 slo 450 $a Leberova dedičná atrofia optika $5 e $8 slo 686 $a C10.292.700.225.500.400 686 $a C10.574.500.662.400 686 $a C11.270.564.400 686 $a C11.640.451.451.400 686 $a C16.320.290.564.400 686 $a C16.320.400.630.400 686 $a C18.452.660.670 750 $a Optic Atrophy, Hereditary, Leber $8 eng 801 -0
$a US $b DNLM $c 20010725 801 -2
$a SK $b BA006 $c 20040706 801 -2
$a SK $b BA006 $c 20160104 980 $x M
Počet záznamov: 1