Počet záznamov: 1
homocystinúria
SYS d006712 LBL 00000cx--j2200000---45-- 005 20240119201215.9 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 1969(1967) $8 eng 300 1-
$a Amino Acid Metabolism, Inborn Errors (1966) $8 eng 300 1-
$a Mental Retardation (1966) $8 eng 330 1-
$a 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) $8 eng 450 $a CBS Deficiency $5 e $8 eng 450 $a Cystathionine beta-Synthase Deficiency Disease $5 e $8 eng 450 $a choroba z deficitu cystationín-beta-syntázy $5 e $8 slo 450 $a choroba z nedostatku cystationín-beta-syntázy $5 e $8 slo 450 $a deficit CBS $5 e $8 slo 450 $a deficit cystationín-beta-syntázy $5 e $8 slo 550 $3 sllk_un_auth*d003541 $Y Cystathionine beta-Synthase $5 B $a cystationín-beta-syntáza 550 $3 sllk_un_auth*d003541 $Y Cystathionine beta-Synthase $5 F $a cystationín-beta-syntáza 550 $3 sllk_un_auth*d013766 $Y 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase $5 B $a 5-metyltetrahydrofolát-homocysteín-metyltransferáza 686 $a C10.228.140.163.100.365 686 $a C16.320.565.100.480.500 686 $a C16.320.565.189.365 686 $a C17.300.428 686 $a C18.452.132.100.365 686 $a C18.452.648.100.480.500 686 $a C18.452.648.189.365 750 $a Homocystinuria $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010110 801 -2
$a SK $b BA006 $c 20101220 980 $x M
Počet záznamov: 1