Number of the records: 1
cystinúria
SYS d003555 LBL 00000nx--j22000003--45-- 005 20240119201229.0 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a cystinúria $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 330 1-
$a An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. $8 eng 550 $3 sllk_un_auth*d014556 $Y Urine $5 B $a moč 686 $a C12.050.351.968.419.815.885.250 686 $a C12.200.777.419.815.885.250 686 $a C12.950.419.815.885.250 686 $a C16.320.831.885.250 750 $a Cystinuria $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 980 $x M
Number of the records: 1