Number of the records: 1
galaktozémie
SYS d005693 LBL 00000cx--j2200000---45-- 005 20240119201228.5 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2000(1966) $8 eng 330 1-
$a 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) $8 eng 450 $a Galactokinase Deficiency Disease $5 e $8 eng 450 $a Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease $5 e $8 eng 450 $a UDPglucose 4-Epimerase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu galaktokinázy $5 e $8 slo 450 $a choroba z deficitu galaktóza 1-fosfát uridyltransferázy $5 e $8 slo 450 $a choroba z deficitu UDP-glukóza 4-epimerázy $5 e $8 slo 550 $3 sllk_un_auth*d005686 $Y Galactokinase $5 B $a galaktokináza 550 $3 sllk_un_auth*d005690 $Y Galactose $5 B $a galaktóza 550 $3 sllk_un_auth*d005686 $Y Galactokinase $5 F $a galaktokináza 550 $3 sllk_un_auth*d005690 $Y Galactose $5 F $a galaktóza 550 $3 sllk_un_auth*d014534 $Y UDPglucose 4-Epimerase $5 F $a UDP-glukóza 4-epimeráza 550 $3 sllk_un_auth*d006599 $Y UDPglucose-Hexose-1-Phosphate Uridylyltransferase $5 F $a UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza 550 $3 sllk_un_auth*d005694 $Y UTP-Hexose-1-Phosphate Uridylyltransferase $5 F $a UTP-hexóza-1-fosfát-uridylyltransferáza 550 $3 sllk_un_auth*d005694 $Y UTP-Hexose-1-Phosphate Uridylyltransferase $5 B $a UTP-hexóza-1-fosfát-uridylyltransferáza 550 $3 sllk_un_auth*d006599 $Y UDPglucose-Hexose-1-Phosphate Uridylyltransferase $5 B $a UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza 550 $3 sllk_un_auth*d014534 $Y UDPglucose 4-Epimerase $5 B $a UDP-glukóza 4-epimeráza 686 $a C10.228.140.163.100.320 686 $a C16.320.565.189.320 686 $a C16.320.565.202.355 686 $a C18.452.132.100.320 686 $a C18.452.648.189.320 686 $a C18.452.648.202.355 750 $a Galactosemias $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070227 801 -2
$a SK $b BA006 $c 20140613 980 $x M
Number of the records: 1