Number of the records: 1
galaktozémie
SYS d005693 LBL 00000cz--a2200000n--4500 005 20250606213811.9 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.320 065 $a C16.320.565.189.320 065 $a C16.320.565.202.355 065 $a C18.452.132.100.320 065 $a C18.452.648.189.320 065 $a C18.452.648.202.355 066 $a 01 $c 03 150 $a galaktozémie $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 Galactokinase Deficiency Disease $2 eng 450 $w v $a Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease $2 eng 450 $w v $a UDPglucose 4-Epimerase Deficiency Disease $2 eng 450 $w v $a choroba z deficitu galaktokinázy $2 slo 450 $w v $a choroba z deficitu galaktóza 1-fosfát uridyltransferázy $2 slo 450 $w v $a choroba z deficitu UDP-glukóza 4-epimerázy $2 slo 550 $7 sllk_us_auth*d005686 $Y Galactokinase $w b $a galaktokináza 550 $7 sllk_us_auth*d005690 $Y Galactose $w b $a galaktóza 550 $7 sllk_us_auth*d005686 $Y Galactokinase $w p $a galaktokináza 550 $7 sllk_us_auth*d005690 $Y Galactose $w p $a galaktóza 550 $7 sllk_us_auth*d005694 $Y UTP-Hexose-1-Phosphate Uridylyltransferase $w p $a UTP-hexóza-1-fosfát-uridylyltransferáza 550 $7 sllk_us_auth*d006599 $Y UDPglucose-Hexose-1-Phosphate Uridylyltransferase $w p $a UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza 550 $7 sllk_us_auth*d014534 $Y UDPglucose 4-Epimerase $w p $a UDP-glukóza 4-epimeráza 550 $7 sllk_us_auth*d005694 $Y UTP-Hexose-1-Phosphate Uridylyltransferase $w b $a UTP-hexóza-1-fosfát-uridylyltransferáza 550 $7 sllk_us_auth*d006599 $Y UDPglucose-Hexose-1-Phosphate Uridylyltransferase $w b $a UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza 550 $7 sllk_us_auth*d014534 $Y UDPglucose 4-Epimerase $w b $a UDP-glukóza 4-epimeráza 665 $a 2000(1966) $2 eng 680 9-
$i A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) $2 eng 750 -2
$a Galactosemias $2 eng 980 $x M
Number of the records: 1