Number of the records: 1
glykogenóza, typ IV
SYS d006011 LBL 00000cz--a2200000o--4500 005 20250606214337.4 008 921212|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.202.449.540 065 $a C18.452.648.202.449.540 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Amylopectinosis $2 eng 450 $w v $a Andersen Disease $2 eng 450 $w v $a Brancher Deficiency $2 eng 450 $w v $a Glycogenosis 4 $2 eng 450 $w v $a choroba z ukladania glykogénu, typ IV $2 slo 450 $w v $a amylopektinóza $2 slo 450 $w v $a Andersenova choroba $2 slo 450 $w v $a deficit branchera $2 slo 450 $w v $a deficit vetviaceho enzýmu $2 slo 450 $w v $a glykogenóza 4 $2 slo 665 $a 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988 $2 eng 665 $a Glucosyltransferases/metabolism (1966-1974) $2 eng 665 $a Glycogenosis (1966-1974) $2 eng 665 $a Liver Diseases (1966-1974) $2 eng 680 9-
$i 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. $2 eng 680 $a do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis $2 eng 750 -2
$a Glycogen Storage Disease Type IV $2 eng 980 $x M
Number of the records: 1