Počet záznamov: 1
homocystinúria
SYS d006712 LBL 00000cz--a2200000n--4500 005 20250606213537.5 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.365 065 $a C16.320.565.100.480.500 065 $a C16.320.565.189.365 065 $a C17.300.428 065 $a C18.452.132.100.365 065 $a C18.452.648.100.480.500 065 $a C18.452.648.189.365 066 $a 01 $c 03 150 $a homocystinúria $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 CBS Deficiency $2 eng 450 $w v $a Cystathionine beta-Synthase Deficiency Disease $2 eng 450 $w v $a choroba z deficitu cystationín-beta-syntázy $2 slo 450 $w v $a choroba z nedostatku cystationín-beta-syntázy $2 slo 450 $w v $a deficit CBS $2 slo 450 $w v $a deficit cystationín-beta-syntázy $2 slo 550 $7 sllk_us_auth*d003541 $Y Cystathionine beta-Synthase $w b $a cystationín-beta-syntáza 550 $7 sllk_us_auth*d003541 $Y Cystathionine beta-Synthase $w p $a cystationín-beta-syntáza 550 $7 sllk_us_auth*d013766 $Y 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase $w b $a 5-metyltetrahydrofolát-homocysteín-metyltransferáza 665 $a 1969(1967) $2 eng 665 $a Amino Acid Metabolism, Inborn Errors (1966) $2 eng 665 $a Mental Retardation (1966) $2 eng 680 9-
$i Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) $2 eng 750 -2
$a Homocystinuria $2 eng 980 $x M
Počet záznamov: 1