Počet záznamov: 1
beta-manozidóza
SYS d044905 LBL 00000nx--j22000003--45-- 005 20240119201434.0 100 $a 20030709csloy0103----ba0 152 $b mesh 250 $a beta-manozidóza $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 2004 $8 eng 300 1-
$a Mannosidase Deficiency Diseases (1984-2003) $8 eng 330 1-
$a An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation. $8 eng 450 $a Mannosidosis, beta A, Lysosomal $5 e $8 eng 450 $a manozidóza beta A, lyzozómová $5 e $8 slo 550 $3 sllk_un_auth*d044902 $Y beta-Mannosidase $5 B $a beta-manozidáza 550 $3 sllk_un_auth*d044902 $Y beta-Mannosidase $5 F $a beta-manozidáza 686 $a C16.320.565.202.607.750 686 $a C16.320.565.595.577.750 686 $a C18.452.648.202.607.750 686 $a C18.452.648.595.577.750 750 $a beta-Mannosidosis $8 eng 801 -0
$a US $b DNLM $c 20030709 801 -2
$a SK $b BA006 $c 20040531 980 $x M
Počet záznamov: 1