Number of the records: 1
cystinúria
SYS d003555 LBL 00000nz--a2200000o--4500 005 20250606213621.8 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C12.050.351.968.419.815.885.250 065 $a C12.200.777.419.815.885.250 065 $a C12.950.419.815.885.250 065 $a C16.320.831.885.250 066 $a 01 $c 03 150 $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 $2 slo 550 $7 sllk_us_auth*d014556 $Y Urine $w b $a moč 680 9-
$i 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. $2 eng 750 -2
$a Cystinuria $2 eng 980 $x M
Number of the records: 1