Počet záznamov: 1
intolerancia fruktózy
SYS d005633 LBL 00000nx--j22000003--45-- 005 20240119201000.8 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a intolerancia fruktózy $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 1991(1975); use FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; use CARBOHYDRATE METABOLISM, INBORN ERRORS 1964-1988 $8 eng 330 1-
$a An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. $8 eng 450 $a neznášanlivosť fruktózy $5 e $8 slo 550 $3 sllk_un_auth*d005634 $Y Fructose-Bisphosphate Aldolase $5 F $a fruktózabisfosfátaldoláza 550 $3 sllk_un_auth*d005634 $Y Fructose-Bisphosphate Aldolase $5 B $a fruktózabisfosfátaldoláza 686 $a C16.320.565.202.251.271 686 $a C18.452.648.202.251.271 750 $a Fructose Intolerance $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 820 $a an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $8 eng 980 $x M
Počet záznamov: 1