Počet záznamov: 1
Gaucherova choroba
SYS d005776 LBL 00000cx--j22000003--45-- 005 20240119201008.4 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a Gaucherova choroba $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(1966) $8 eng 330 1-
$a An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. $8 eng 450 $a Cerebroside Lipidosis Syndrome $5 e $8 eng 450 $a Gaucher Disease Type 1 $5 e $8 eng 450 $a Gaucher Disease Type 2 $5 e $8 eng 450 $a Glucocerebrosidase Deficiency Disease $5 e $8 eng 450 $a Glucosylceramide Beta-Glucosidase Deficiency Disease $5 e $8 eng 450 $a Neuronopathic Gaucher Disease $5 e $8 eng 450 $a syndróm cerebrozidovej lipidózy $5 e $8 slo 450 $a choroba z deficitu glukocerebrozidázy $5 e $8 slo 450 $a choroba z deficitu glukozylceramidbetaglukozidázy $5 e $8 slo 450 $a Gaucherova choroba neuronopatická $5 e $8 slo 450 $a Gaucherova choroba, typ 1 $5 e $8 slo 450 $a Gaucherova choroba, typ 2 $5 e $8 slo 450 $a Gaucherova choroba, typ 3 $5 e $8 slo 450 $a Gaucherova splenomegália $5 e $8 slo 450 $a deficit glukocerebrozidázy $5 e $8 slo 450 $a glukocerebrozidóza $5 e $8 slo 450 $a deficit glukozylceramidázy $5 e $8 slo 450 $a deficit glukozylceramid beta-glukozidázy $5 e $8 slo 450 $a lipidóza glukozylceramidová $5 e $8 slo 450 $a histiocytóza kerazínová $5 e $8 slo 450 $a lipoidóza kerazínová $5 e $8 slo 450 $a tezaurizmóza kerazínová $5 e $8 slo 450 $a Gaucherova choroba, neuropatická forma $5 e $8 slo 450 $a Gaucherova choroba, subakútna neuropatická forma $5 e $8 slo 450 $a Gaucherova choroba, non-neuropatická forma $5 e $8 slo 550 $3 sllk_un_auth*d005962 $Y Glucosylceramidase $5 F $a glukozylceramidáza 550 $3 sllk_un_auth*d005962 $Y Glucosylceramidase $5 B $a glukozylceramidáza 686 $a C10.228.140.163.100.435.825.400 686 $a C16.320.565.189.435.825.400 686 $a C16.320.565.398.641.803.441 686 $a C16.320.565.595.554.825.400 686 $a C18.452.132.100.435.825.400 686 $a C18.452.584.563.641.803.441 686 $a C18.452.648.189.435.825.400 686 $a C18.452.648.398.641.803.441 686 $a C18.452.648.595.554.825.400 750 $a Gaucher Disease $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20001109 801 -2
$a SK $b BA006 $c 20101220 801 -2
$a SK $b BA006 $c 20200124 980 $x M
Počet záznamov: 1