Počet záznamov: 1
alfa-manozidóza
SYS d008363 LBL 00000cx--j2200000---45-- 005 20240119201431.3 100 $a 19920529asloy0103----ba0 152 $b mesh 250 $a alfa-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(1985) $8 eng 300 1-
$a Carbohydrate Metabolism, Inborn Errors (1966-1984) $8 eng 300 1-
$a Mannose (1966-1984) $8 eng 300 1-
$a Mannosidases (1975-1984) $8 eng 300 1-
$a Mannosidosis (1985-2003) $8 eng 300 1-
$a Metabolism, Inborn Errors (1966-1984) $8 eng 330 1-
$a An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. $8 eng 450 $a Mannosidosis, alpha B, Lysosomal $5 e $8 eng 450 $a manozidóza alfa B, lyzozómová $5 e $8 slo 450 $a manozidóza, alfa B, lyzozomálna $5 e $8 slo 450 $a deficit alfa-manozidázy $5 e $8 slo 450 $a deficit lyzozomálnej alfa-D manozidázy $5 e $8 slo 450 $a deficit alfa-manozidázy B $5 e $8 slo 450 $a alfa-manozidóza, typ 1 $5 e $8 slo 450 $a alfa-D-manozidóza $5 e $8 slo 550 $3 sllk_un_auth*d043323 $Y alpha-Mannosidase $5 F $a alfa-manozidáza 550 $3 sllk_un_auth*d043323 $Y alpha-Mannosidase $5 B $a alfa-manozidáza 686 $a C16.320.565.202.607.500 686 $a C16.320.565.595.577.500 686 $a C18.452.648.202.607.500 686 $a C18.452.648.595.577.500 750 $a alpha-Mannosidosis $8 eng 801 -0
$a US $b DNLM $c 19920529 801 -2
$a SK $b BA006 $c 20040218 801 -2
$a SK $b BA006 $c 20140925 980 $x M
Počet záznamov: 1