Počet záznamov: 1
pyknodysostóza
SYS d058631 LBL 00000nx--j2200000---45-- 005 20240119200643.2 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a pyknodysostóza $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 2011 $8 eng 300 1-
$a Dysostoses (1966-2010) $8 eng 330 1-
$a Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. $8 eng 450 $a Pyknodysostosis $5 e $8 eng 450 $a pycnodysosthosis $5 e $8 slo 686 $a C05.116.099.708.779 686 $a C16.320.565.595.800 686 $a C16.320.812 686 $a C18.452.648.595.800 750 $a Pycnodysostosis $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20110802 980 $x M
Počet záznamov: 1