Počet záznamov: 1
glukóza-6-fosfátdehydrogenáza
SYS d005954 LBL 00000nz--a2200000o--4500 005 20250606214722.3 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a D08.811.682.047.150.300 066 $a 01 $c 03 150 $a glukóza-6-fosfátdehydrogenáza $x AD $x AE $x AI $x AN $x BI $x BL $x CF $x CH $x CL $x CS $x DE $x EC $x GE $x HI $x IM $x IP $x ME $x PD $x PH $x PK $x PO $x RE $x SD $x ST $x TO $x TU $x UL $x UR $2 slo 450 $w v $a Glucose-6-Phosphate Dehydrogenase $2 eng 450 $w v $a G-6-PDH $2 slo 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 750 -2
$a Glucosephosphate Dehydrogenase $2 eng 980 $x M
Počet záznamov: 1