Počet záznamov: 1
glykogenóza, typ I
SYS d005953 LBL 00000cz--a2200000n--4500 005 20250606214157.5 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C16.320.565.202.449.448 065 $a C18.452.648.202.449.448 066 $a 01 $c 03 150 $a glykogenóza, typ I $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 Glucose-6-Phosphatase Deficiency $2 eng 450 $w v $a Glucosephosphatase Deficiency $2 eng 450 $w v $a Glycogenosis 1 $2 eng 450 $w v $a Hepatorenal Glycogen Storage Disease $2 eng 450 $w v $a von Gierke Disease $2 eng 450 $w v $a choroba z ukladania glykogénu, typ I $2 slo 450 $w v $a deficit glukóza-6-fosfatázy $2 slo 450 $w v $a deficit glukózafosfatázy $2 slo 450 $w v $a glykogenóza 1 $2 slo 450 $w v $a choroba z ukladania glykogénu, hepatorenálna $2 slo 450 $w v $a glykogenóza hepatorenálna $2 slo 450 $w v $a von Gierkeho choroba $2 slo 665 $a 1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964 $2 eng 680 9-
$i An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. $2 eng 680 $a do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $2 eng 750 -2
$a Glycogen Storage Disease Type I $2 eng 980 $x M
Počet záznamov: 1