Počet záznamov: 1
ataxia teleangiektázia
SYS d001260 LBL 00000cx--j2200000---45-- 005 20240119195456.5 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a ataxia teleangiektázia $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 1968 $8 eng 300 1-
$a Ataxia (1966-1967) $8 eng 330 1-
$a An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). $8 eng 450 $a Louis-Bar Syndrome $5 e $8 eng 450 $a Louis-Barovej syndróm $5 e $8 slo 450 $a ataxia teleangiektatická $5 e $8 slo 450 $a ataxia teleangiectasia $5 e $8 slo 450 $a ataxia-teleangiektázia $5 e $8 slo 686 $a C10.228.140.252.190.530.060 686 $a C10.562.100 686 $a C10.597.350.090.500.530.060 686 $a C14.907.823.213 686 $a C16.320.080 686 $a C16.320.798.250 686 $a C18.452.284.060 686 $a C20.673.795.250 750 $a Ataxia Telangiectasia $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010125 801 -2
$a SK $b BA006 $c 20080505 801 -0
$a SK $b BA006 $c 20140226 980 $x M
Počet záznamov: 1