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Niemannova-Pickova choroba, typ C
SYS d052556 LBL 00000cz--a2200000n--4500 005 20250606214859.6 008 060705|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.435.825.700.875 065 $a C15.604.250.410.625.875 065 $a C16.320.565.189.435.825.700.875 065 $a C16.320.565.398.641.803.730.875 065 $a C16.320.565.595.554.825.700.875 065 $a C18.452.132.100.435.825.700.875 065 $a C18.452.584.563.641.803.730.875 065 $a C18.452.648.189.435.825.700.875 065 $a C18.452.648.398.641.803.730.875 065 $a C18.452.648.595.554.825.700.875 066 $a 01 $c 03 150 $a Niemannova-Pickova choroba, typ C $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 Niemann-Pick Disease Type C $2 eng 450 $w v $a Niemann-Pick Disease, Type D $2 eng 450 $w v $a Niemann-Pick Type C Disease $2 eng 450 $w v $a Niemann-Pick Type D Disease $2 eng 450 $w v $a choroba neuroviscerálneho ukladania s vertikálnou supranukleárnou oftalmoplégiou $2 slo 450 $w v $a Niemannova-Pickova choroba typu C $2 slo 450 $w v $a Niemannova-Pickova choroba, typ D $2 slo 450 $w v $a Niemannova-Pickova choroba typu D $2 slo 450 $w v $a Niemann-Pickova choroba s blokovaním esterifikácie cholesterolu $2 slo 450 $w v $a Neiemann-Pickova choroba bez deficitu sfyngomyelinázy $2 slo 450 $w v $a Niemann-Pickova choroba, chronická neuronopatická forma $2 slo 450 $w v $a Niemann-Pickova choroba, typ Nové Škótsko $2 slo 450 $w v $a Niemann-Pickova choroba, novoškótsky typ $2 slo 450 $w v $a Niemann-Pickova choroba, subakútna juvenilná forma $2 slo 450 $w v $a Niemann-Pickova choroba typu D, novoškótska forma $2 slo 665 $a 2007; use NIEMANN-PICK DISEASES 2000-2006 $2 eng 665 $a Niemann-Pick Diseases (1968-2006) $2 eng 680 9-
$i An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. $2 eng 750 -2
$a Niemann-Pick Disease, Type C $2 eng 980 $x M
Number of the records: 1