Number of the records: 1
Niemannove-Pickove choroby
SYS d009542 LBL 00000cz--a2200000n--4500 005 20250606213626.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.435.825.700 065 $a C15.604.250.410.625 065 $a C16.320.565.189.435.825.700 065 $a C16.320.565.398.641.803.730 065 $a C16.320.565.595.554.825.700 065 $a C18.452.132.100.435.825.700 065 $a C18.452.584.563.641.803.730 065 $a C18.452.648.189.435.825.700 065 $a C18.452.648.398.641.803.730 065 $a C18.452.648.595.554.825.700 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Acid Sphingomyelinase Deficiency $2 eng 450 $w v $a Acid Sphingomyelinase-Deficient Niemann-Pick Disease $2 eng 450 $w v $a ASM Deficiency $2 eng 450 $w v $a ASM-Deficient Niemann-Pick Disease $2 eng 450 $w v $a Niemann-Pick Disease $2 eng 450 $w v $a Niemannova-Pickova choroba $2 slo 450 $w v $a Niemann-Pickova choroba $2 slo 450 $w v $a deficit kyslej sfingomyelinázy $2 slo 450 $w v $a deficit ASM $2 slo 450 $w v $a ASM deficientná Niemannova-Pickova choroba $2 slo 450 $w v $a Niemannova-Pickova choroba s deficitom kyslej sfingomyelinázy $2 slo 550 $7 sllk_us_auth*d012618 $Y Sea-Blue Histiocyte Syndrome $w p $a syndróm modrých histiocytov 550 $7 sllk_us_auth*d013108 $Y Sphingomyelin Phosphodiesterase $w p $a sfingomyelínfosfodiesteráza 550 $7 sllk_us_auth*d012618 $Y Sea-Blue Histiocyte Syndrome $w b $a syndróm modrých histiocytov 550 $7 sllk_us_auth*d013108 $Y Sphingomyelin Phosphodiesterase $w b $a sfingomyelínfosfodiesteráza 665 $a 2000(1966) $2 eng 680 9-
$i 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. $2 eng 680 $a note specific types are available $2 eng 750 -2
$a Niemann-Pick Diseases $2 eng 980 $x M
Number of the records: 1