Počet záznamov: 1
neuroakantocytóza
SYS d054546 LBL 00000nx--j2200000---45-- 005 20240119200602.6 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a neuroakantocytóza $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 2008 (2000) $8 eng 300 1-
$a Acanthocytes (1981-2007) $8 eng 300 1-
$a Hematologic Diseases (1982-2007) $8 eng 300 1-
$a Movement Disorders (1982-2007) $8 eng 330 1-
$a An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21. $8 eng 450 $a Choreoacanthocytosis $5 e $8 eng 450 $a choreoakantocytóza $5 e $8 slo 686 $a C10.228.662.262.249.937 686 $a C16.320.400.550 750 $a Neuroacanthocytosis $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1