Počet záznamov: 1
fenylketonúrie
SYS d010661 LBL 00000cz--a2200000n--4500 005 20250606213315.4 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.687 065 $a C16.320.565.100.766 065 $a C16.320.565.189.687 065 $a C18.452.132.100.687 065 $a C18.452.648.100.766 065 $a C18.452.648.189.687 066 $a 01 $c 03 089 $a 616-008.9-056.7 089 $a 547.586.2 150 $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 $2 slo 450 $w v $a Biopterin Deficiency $2 eng 450 $w v $a Dihydropteridine Reductase Deficiency Disease $2 eng 450 $w v $a Hyperphenylalaninemia, Non-Phenylketonuric $2 eng 450 $w v $a Phenylalanine Hydroxylase Deficiency Disease $2 eng 450 $w v $a deficiencia biopterínu $2 slo 450 $w v $a BH4 deficiencia $2 slo 450 $w v $a deficiencia tetrahydropterínu $2 slo 450 $w v $a DHPR deficiencia $2 slo 450 $w v $a PAH deficiencia $2 slo 450 $w v $a QDPR deficiencia $2 slo 450 $w v $a HPABH4C $2 slo 450 $w v $a PKU, atypická $2 slo 450 $w v $a fenylketonúria $2 slo 450 $w v $a fenylketonúria I $2 slo 450 $w v $a fenylketonúria II $2 slo 450 $w v $a fenylketonúria, typ 2 $2 slo 450 $w v $a fenylketonúria druhého typu $2 slo 450 $w v $a fenylketonúria klasická $2 slo 450 $w v $a fenylketonúria atypická $2 slo 450 $w v $a Föllingova choroba $2 slo 450 $w v $a choroba z deficitu dihydropteridín reduktázy $2 slo 450 $w v $a deficit quinoid-dihydropteridín reduktázy $2 slo 450 $w v $a hyperfenylalaninémia nefenylketonurická $2 slo 450 $w v $a choroba z deficitu fenylalanín hydroxylázy $2 slo 450 $w v $a deficit fenylalanín hydroxylázy $2 slo 450 $w v $a deficiencia fenylalanín hydroxylázy $2 slo 450 $w v $a choroba z deficitu fenylalanín hydroxylázy, ťažká $2 slo 450 $w v $a hyperfenylalaninémia $2 slo 450 $w v $a hyperfenylalaninémia spôsobená poruchou metabolizmu biopterínu $2 slo 450 $w v $a hyperfenylalaninémia, BH4-deficientná, C $2 slo 450 $w v $a hyperfenylalaninémia, tetrahydrobiopterín-deficientná, z dôvodu deficiencie DHPR $2 slo 450 $w v $a oligophrenia phenylpyruvica $2 slo 550 $7 sllk_us_auth*d010651 $Y Phenylalanine Hydroxylase $w b $a fenylalanínhydroxyláza 550 $7 sllk_us_auth*d004093 $Y Dihydropteridine Reductase $w p $a dihydropteridínreduktáza 550 $7 sllk_us_auth*d010651 $Y Phenylalanine Hydroxylase $w p $a fenylalanínhydroxyláza 550 $7 sllk_us_auth*d014556 $Y Urine $w b $a moč 665 $a 2000(1974) $2 eng 680 9-
$i 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). $2 eng 750 -2
$a Phenylketonurias $2 eng 980 $x M
Počet záznamov: 1