Number of the records: 1
glykogenóza, typ IV
SYS d006011 LBL 00000cx--j22000003--45-- 005 20240119195700.8 100 $a 19921212csloy0103----ba0 152 $b mesh 250 $a glykogenóza, typ IV $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 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988 $8 eng 300 1-
$a Glucosyltransferases/metabolism (1966-1974) $8 eng 300 1-
$a Glycogenosis (1966-1974) $8 eng 300 1-
$a Liver Diseases (1966-1974) $8 eng 330 1-
$a An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. $8 eng 450 $a Amylopectinosis $5 e $8 eng 450 $a Andersen Disease $5 e $8 eng 450 $a Brancher Deficiency $5 e $8 eng 450 $a Glycogenosis 4 $5 e $8 eng 450 $a choroba z ukladania glykogénu, typ IV $5 e $8 slo 450 $a amylopektinóza $5 e $8 slo 450 $a Andersenova choroba $5 e $8 slo 450 $a deficit branchera $5 e $8 slo 450 $a deficit vetviaceho enzýmu $5 e $8 slo 450 $a glykogenóza 4 $5 e $8 slo 686 $a C16.320.565.202.449.540 686 $a C18.452.648.202.449.540 750 $a Glycogen Storage Disease Type IV $8 eng 801 -0
$a US $b DNLM $c 19921212 801 -2
$a SK $b BA006 $c 20060404 820 $a do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis $8 eng 980 $x M
Number of the records: 1