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leukodystrofia globoidocelulárna
SYS d007965 LBL 00000cx--j22000003--45-- 005 20240119201041.1 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a leukodystrofia globoidocelulárna $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 1974(1963) $8 eng 330 1-
$a An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. $8 eng 450 $a Diffuse Globoid Body Sclerosis $5 e $8 eng 450 $a Galactosylceramidase Deficiency Disease $5 e $8 eng 450 $a Krabbe Disease $5 e $8 eng 450 $a Krabbeho choroba $5 e $8 slo 450 $a Krabbeho syndróm (I) $5 e $8 slo 450 $a cerebrosclerosis acuta diffusa infantilis $5 e $8 slo 450 $a poliodystrophia cerebri progressiva infantilis $5 e $8 slo 450 $a skleróza sferoidálnych buniek difúzna $5 e $8 slo 450 $a leukodystrofia sferoidálnych buniek $5 e $8 slo 450 $a choroba z deficitu galaktozylceramidázy $5 e $8 slo 450 $a lipidóza galaktozylceramidová $5 e $8 slo 550 $3 sllk_un_auth*d005698 $Y Galactosylceramidase $5 B $a galaktozylceramidáza 550 $3 sllk_un_auth*d005698 $Y Galactosylceramidase $5 F $a galaktozylceramidáza 686 $a C10.228.140.163.100.362.500 686 $a C10.228.140.163.100.435.825.590 686 $a C10.228.140.695.625.500 686 $a C10.314.400.500 686 $a C16.320.565.189.362.500 686 $a C16.320.565.189.435.825.590 686 $a C16.320.565.398.641.803.585 686 $a C16.320.565.595.554.825.590 686 $a C18.452.132.100.362.500 686 $a C18.452.132.100.435.825.590 686 $a C18.452.584.563.641.803.585 686 $a C18.452.648.189.362.500 686 $a C18.452.648.189.435.825.590 686 $a C18.452.648.398.641.803.585 686 $a C18.452.648.595.554.825.590 750 $a Leukodystrophy, Globoid Cell $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010426 810 $a Encyklopédia medicíny VII. diel FO - HA / Kadlec Oskár. - Bratislava : Asklepios, 1998. s. 261 980 $x M
Number of the records: 1