Number of the records: 1
fukozidóza
SYS d005645 LBL 00000nx--j22000003--45-- 005 20240119201001.0 100 $a 19920529csloy0103----ba0 152 $b mesh 250 $a fukozidóza $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 1985 $8 eng 300 1-
$a Carbohydrate Metabolism, Inborn Errors (1966-1984) $8 eng 300 1-
$a Fucose (1966-1984) $8 eng 300 1-
$a Fucosidase (1975-1984) $8 eng 330 1-
$a An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) $8 eng 450 $a Fucosidase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu fukozidázy $5 e $8 slo 450 $a choroba z nedostatku fukozidázy $5 e $8 slo 550 $3 sllk_un_auth*d005644 $Y alpha-L-Fucosidase $5 B $a alfa-L-fukozidáza 550 $3 sllk_un_auth*d005644 $Y alpha-L-Fucosidase $5 F $a alfa-L-fukozidáza 686 $a C10.228.140.163.100.435.295 686 $a C16.320.565.189.435.295 686 $a C16.320.565.202.303 686 $a C16.320.565.595.554.295 686 $a C18.452.132.100.435.295 686 $a C18.452.648.189.435.295 686 $a C18.452.648.202.303 686 $a C18.452.648.595.554.295 750 $a Fucosidosis $8 eng 801 -0
$a US $b DNLM $c 19920529 801 -2
$a SK $b BA006 $c 20010108 980 $x M
Number of the records: 1