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Leighov syndróm
SYS d007888 LBL 00000cz--a2200000o--4500 005 20250606213522.5 008 920406|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.412 065 $a C16.320.565.189.412 065 $a C16.320.565.202.810.444 065 $a C18.452.132.100.412 065 $a C18.452.648.189.412 065 $a C18.452.648.202.810.444 065 $a C18.452.660.520 066 $a 01 $c 03 150 $a Leighov syndróm $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 Encephalomyelitis, Subacute Necrotizing $2 eng 450 $w v $a Encephalopathy, Subacute Necrotizing $2 eng 450 $w v $a encefalomyelopatia subakútna nekrotizujúca $2 slo 450 $w v $a encefalomyelitída subakútna nekrotizujúca $2 slo 450 $w v $a encefalopatia subakútna nekrotizujúca $2 slo 550 $7 sllk_us_auth*d015325 $Y Pyruvate Dehydrogenase Complex Deficiency Disease $w p $a choroba z deficitu pyruvátdehydrogenázového komplexu 550 $7 sllk_us_auth*d030401 $Y Cytochrome-c Oxidase Deficiency $w p $a deficit cytochróm-c oxidázy 550 $7 sllk_us_auth*d015325 $Y Pyruvate Dehydrogenase Complex Deficiency Disease $w b $a choroba z deficitu pyruvátdehydrogenázového komplexu 665 $a 1991(1985) $2 eng 665 $a Brain Diseases (1966-1984) $2 eng 665 $a Encephalomalacia (1966-1984) $2 eng 665 $a Pyruvate Carboxylase/deficiency (1975-1984) $2 eng 680 9-
$i A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850). $2 eng 750 -2
$a Leigh Disease $2 eng 980 $x M
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