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Niemannove-Pickove choroby
SYS d009542 LBL 00000cx--j2200000---45-- 005 20240412121320.7 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a Niemannove-Pickove choroby $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 A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. $8 eng 450 $a ASM Deficiency $5 e $8 eng 450 $a ASM-Deficient Niemann-Pick Disease $5 e $8 eng 450 $a Acid Sphingomyelinase Deficiency $5 e $8 eng 450 $a Acid Sphingomyelinase-deficient Niemann-Pick Disease $5 e $8 eng 450 $a Niemann-Pick Disease $5 e $8 eng 450 $a Niemannova-Pickova choroba $5 e $8 slo 450 $a Niemann-Pickova choroba $5 e $8 slo 450 $a deficit kyslej sfingomyelinázy $5 e $8 slo 450 $a deficit ASM $5 e $8 slo 450 $a ASM deficientná Niemannova-Pickova choroba $5 e $8 slo 450 $a Niemannova-Pickova choroba s deficitom kyslej sfingomyelinázy $5 e $8 slo 550 $3 sllk_un_auth*d012618 $Y Sea-Blue Histiocyte Syndrome $5 F $a syndróm modrých histiocytov 550 $3 sllk_un_auth*d013108 $Y Sphingomyelin Phosphodiesterase $5 F $a sfingomyelínfosfodiesteráza 550 $3 sllk_un_auth*d012618 $Y Sea-Blue Histiocyte Syndrome $5 B $a syndróm modrých histiocytov 550 $3 sllk_un_auth*d013108 $Y Sphingomyelin Phosphodiesterase $5 B $a sfingomyelínfosfodiesteráza 686 $a C10.228.140.163.100.435.825.700 686 $a C15.604.250.410.625 686 $a C16.320.565.189.435.825.700 686 $a C16.320.565.398.641.803.730 686 $a C16.320.565.595.554.825.700 686 $a C18.452.132.100.435.825.700 686 $a C18.452.584.563.641.803.730 686 $a C18.452.648.189.435.825.700 686 $a C18.452.648.398.641.803.730 686 $a C18.452.648.595.554.825.700 750 $a Niemann-Pick Diseases $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070131 801 -2
$a SK $b BA006 $c 20240412 820 $a note specific types are available $8 eng 980 $x M
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