Počet záznamov: 1
fenylketonúrie
SYS d010661 LBL 00000cx--j2200000---45-- 005 20240408130827.8 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a fenylketonúrie $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(1974) $8 eng 330 1-
$a A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). $8 eng 450 $a Biopterin Deficiency $5 e $8 eng 450 $a deficiencia biopterínu $5 e $8 slo 450 $a BH4 deficiencia $5 e $8 slo 450 $a deficiencia tetrahydropterínu $5 e $8 slo 450 $a DHPR deficiencia $5 e $8 slo 450 $a PAH deficiencia $5 e $8 slo 450 $a QDPR deficiencia $5 e $8 slo 450 $a HPABH4C $5 e $8 slo 450 $a PKU, atypická $5 e $8 slo 450 $a fenylketonúria $5 e $8 slo 450 $a fenylketonúria I $5 e $8 slo 450 $a fenylketonúria II $5 e $8 slo 450 $a fenylketonúria, typ 2 $5 e $8 slo 450 $a fenylketonúria druhého typu $5 e $8 slo 450 $a fenylketonúria klasická $5 e $8 slo 450 $a fenylketonúria atypická $5 e $8 slo 450 $a Föllingova choroba $5 e $8 slo 450 $a Dihydropteridine Reductase Deficiency Disease $5 e $8 eng 450 $a Hyperphenylalaninemia, Non-Phenylketonuric $5 e $8 eng 450 $a Phenylalanine Hydroxylase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu dihydropteridín reduktázy $5 e $8 slo 450 $a deficit quinoid-dihydropteridín reduktázy $5 e $8 slo 450 $a hyperfenylalaninémia nefenylketonurická $5 e $8 slo 450 $a choroba z deficitu fenylalanín hydroxylázy $5 e $8 slo 450 $a deficit fenylalanín hydroxylázy $5 e $8 slo 450 $a deficiencia fenylalanín hydroxylázy $5 e $8 slo 450 $a choroba z deficitu fenylalanín hydroxylázy, ťažká $5 e $8 slo 450 $a hyperfenylalaninémia $5 e $8 slo 450 $a hyperfenylalaninémia spôsobená poruchou metabolizmu biopterínu $5 e $8 slo 450 $a hyperfenylalaninémia, BH4-deficientná, C $5 e $8 slo 450 $a hyperfenylalaninémia, tetrahydrobiopterín-deficientná, z dôvodu deficiencie DHPR $5 e $8 slo 450 $a oligophrenia phenylpyruvica $5 e $8 slo 550 $3 sllk_un_auth*d010651 $Y Phenylalanine Hydroxylase $5 B $a fenylalanínhydroxyláza 550 $3 sllk_un_auth*d004093 $Y Dihydropteridine Reductase $5 F $a dihydropteridínreduktáza 550 $3 sllk_un_auth*d010651 $Y Phenylalanine Hydroxylase $5 F $a fenylalanínhydroxyláza 550 $3 sllk_un_auth*d014556 $Y Urine $5 B $a moč 675 $a 616-008.9-056.7 675 $a 547.586.2 686 $a C10.228.140.163.100.687 686 $a C16.320.565.100.766 686 $a C16.320.565.189.687 686 $a C18.452.132.100.687 686 $a C18.452.648.100.766 686 $a C18.452.648.189.687 750 $a Phenylketonurias $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20001114 801 -2
$a SK $b BA006 $c 20240408 980 $x M
Počet záznamov: 1