Number of the records: 1
neuroakantocytóza
SYS d054546 LBL 00000nz--a2200000n--4500 005 20250606214902.3 008 080101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 065 $a C10.228.662.262.249.937 065 $a C16.320.400.550 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Choreoacanthocytosis $2 eng 450 $w v $a choreoakantocytóza $2 slo 665 $a 2008 (2000) $2 eng 665 $a Acanthocytes (1981-2007) $2 eng 665 $a Hematologic Diseases (1982-2007) $2 eng 665 $a Movement Disorders (1982-2007) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Neuroacanthocytosis $2 eng 980 $x M
Number of the records: 1