Počet záznamov: 1
mukolipidózy
SYS d009081 LBL 00000cx--j22000003--45-- 005 20240119201100.7 100 $a 19920519csloy0103----ba0 152 $b mesh 250 $a mukolipidózy $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 2000(1977) $8 eng 300 1-
$a Lipid Metabolism, Inborn Errors (1966-1976) $8 eng 300 1-
$a Lipochondrodystrophy (1966-1976) $8 eng 300 1-
$a Lipoidosis (1966-1976) $8 eng 300 1-
$a Mucopolysaccharidosis (1974-1976) $8 eng 330 1-
$a A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) $8 eng 450 $a Cherry Red Spot Myoclonus Syndrome $5 e $8 eng 450 $a Ganglioside Sialidase Deficiency Disease $5 e $8 eng 450 $a I-Cell Disease $5 e $8 eng 450 $a Lipomucopolysaccharidosis $5 e $8 eng 450 $a Mucolipidosis $5 e $8 eng 450 $a Myoclonus Cherry Red Spot Syndrome $5 e $8 eng 450 $a Pseudo-Hurler Polydystrophy $5 e $8 eng 450 $a Sialidosis $5 e $8 eng 450 $a mukolipidóza $5 e $8 slo 450 $a choroba I-buniek $5 e $8 slo 450 $a mukolipidóza I $5 e $8 slo 450 $a mukolipidóza II $5 e $8 slo 450 $a sialidóza $5 e $8 slo 450 $a lipomukopolysacharidóza $5 e $8 slo 450 $a syndróm myoklonický, s čerešňovočervenou škvrnou na očnom pozadí $5 e $8 slo 450 $a choroba z deficitu gangliozidsialidázy $5 e $8 slo 450 $a pseudo-Hurlerova polydystrofia $5 e $8 slo 550 $3 sllk_un_auth*d005733 $Y Gangliosidoses $5 B $a gangliozidózy 550 $3 sllk_un_auth*d005733 $Y Gangliosidoses $5 F $a gangliozidózy 686 $a C05.116.198.371 686 $a C10.228.140.163.100.435.590 686 $a C16.320.565.189.435.590 686 $a C16.320.565.202.670 686 $a C16.320.565.595.554.590 686 $a C18.452.132.100.435.590 686 $a C18.452.648.189.435.590 686 $a C18.452.648.202.670 686 $a C18.452.648.595.554.590 750 $a Mucolipidoses $8 eng 801 -0
$a US $b DNLM $c 19920519 801 -2
$a SK $b BA006 $c 20050727 980 $x M
Počet záznamov: 1