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adrenoleukodystrofia
SYS d000326 LBL 00000cz--a2200000n--4500 005 20250606214029.3 008 920427|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 $d BA006 065 $a C10.228.140.163.100.084 065 $a C10.228.140.163.100.362.250 065 $a C10.228.140.695.625.250 065 $a C10.314.400.250 065 $a C10.597.606.360.455.124 065 $a C16.320.322.500.124 065 $a C16.320.400.525.124 065 $a C16.320.565.189.084 065 $a C16.320.565.189.362.250 065 $a C16.320.565.663.100 065 $a C18.452.132.100.084 065 $a C18.452.132.100.362.250 065 $a C18.452.648.189.084 065 $a C18.452.648.189.362.250 065 $a C18.452.648.663.100 065 $a C19.053.500.270 066 $a 01 $c 03 150 $a adrenoleukodystrofia $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 Adrenomyeloneuropathy $2 eng 450 $w v $a Schilder-Addison Complex $2 eng 450 $w v $a X-Linked Adrenoleukodystrophy $2 eng 450 $w v $a adrenomyeloneuropatia $2 slo 450 $w v $a Schilderov-Addisonov komplex $2 slo 450 $w v $a adrenoleukodystrofia viazaná na X chromozóm $2 slo 450 $w v $a X-ALD $2 slo 550 $7 sllk_us_auth*d018528 $Y ATP-Binding Cassette Transporters $w p $a ATP-viažuce kazetové transportéry 550 $7 sllk_us_auth*d018528 $Y ATP-Binding Cassette Transporters $w b $a ATP-viažuce kazetové transportéry 665 $a 1991(1983) $2 eng 665 $a Adrenal Gland Hypofunction (1968-1982) $2 eng 665 $a Cerebral Sclerosis, Diffuse (1966-1982) $2 eng 665 $a Demyelinating Diseases (1966-1982) $2 eng 680 9-
$i An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). $2 eng 680 $a do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS $2 eng 750 -2
$a Adrenoleukodystrophy $2 eng 980 $x M
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