Počet záznamov: 1
glykogenóza, typ VII
SYS d006014 LBL 00000cx--j22000003--45-- 005 20240119201129.0 100 $a 19921212csloy0103----ba0 152 $b mesh 250 $a glykogenóza, typ VII $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 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88 $8 eng 300 1-
$a Glycogenosis (1966-1974) $8 eng 330 1-
$a An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. $8 eng 450 $a Glycogenosis 7 $5 e $8 eng 450 $a Tarui Disease $5 e $8 eng 450 $a choroba z ukladania glykogénu, typ VII $5 e $8 slo 450 $a glykogenóza 7 $5 e $8 slo 450 $a Taruiho choroba $5 e $8 slo 550 $3 sllk_un_auth*d010732 $Y Phosphofructokinase-1 $5 B $a fosfofruktokináza-1 686 $a C05.651.534.500.149 686 $a C10.668.491.175.500.112 686 $a C16.320.565.202.449.600 686 $a C16.320.577.149 686 $a C18.452.648.202.449.600 750 $a Glycogen Storage Disease Type VII $8 eng 801 -0
$a US $b DNLM $c 19921212 801 -2
$a SK $b BA006 $c 20020319 820 $a do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $8 eng 980 $x M
Počet záznamov: 1