Počet záznamov: 1
adrenoleukodystrofia
SYS d000326 LBL 00000cx--j2200000---45-- 005 20240119201324.4 100 $a 19920427asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 1991(1983) $8 eng 300 1-
$a Adrenal Gland Hypofunction (1968-1982) $8 eng 300 1-
$a Cerebral Sclerosis, Diffuse (1966-1982) $8 eng 300 1-
$a Demyelinating Diseases (1966-1982) $8 eng 330 1-
$a 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). $8 eng 450 $a Adrenomyeloneuropathy $5 e $8 eng 450 $a Schilder-Addison Complex $5 e $8 eng 450 $a X-Linked Adrenoleukodystrophy $5 e $8 eng 450 $a adrenomyeloneuropatia $5 e $8 slo 450 $a Schilderov-Addisonov komplex $5 e $8 slo 450 $a adrenoleukodystrofia viazaná na X chromozóm $5 e $8 slo 450 $a X-ALD $5 e $8 slo 550 $3 sllk_un_auth*d018528 $Y ATP-Binding Cassette Transporters $5 F $a ATP-viažuce kazetové transportéry 550 $3 sllk_un_auth*d018528 $Y ATP-Binding Cassette Transporters $5 B $a ATP-viažuce kazetové transportéry 686 $a C10.228.140.163.100.084 686 $a C10.228.140.163.100.362.250 686 $a C10.228.140.695.625.250 686 $a C10.314.400.250 686 $a C10.597.606.360.455.124 686 $a C16.320.322.500.124 686 $a C16.320.400.525.124 686 $a C16.320.565.189.084 686 $a C16.320.565.189.362.250 686 $a C16.320.565.663.100 686 $a C18.452.132.100.084 686 $a C18.452.132.100.362.250 686 $a C18.452.648.189.084 686 $a C18.452.648.189.362.250 686 $a C18.452.648.663.100 686 $a C19.053.500.270 750 $a Adrenoleukodystrophy $8 eng 801 -0
$a US $b DNLM $c 19920427 801 -2
$a SK $b BA006 $c 20001204 801 -2
$a SK $b BA006 $c 20080702 801 -2
$a SK $b BA006 $c 20141104 801 -2
$a SK $b BA006 $c 20170523 820 $a do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS $8 eng 980 $x M
Počet záznamov: 1