Number of the records: 1
acidúria arginínjantárová
SYS d056807 LBL 00000cx--j2200000---45-- 005 20240119201505.9 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a acidúria arginínjantárová $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 2010 $8 eng 300 1-
$a Amino Acid Metabolism, Inborn Errors (1664-2009) $8 eng 330 1-
$a Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. $8 eng 450 $a Arginino Succinase Deficiency $5 e $8 eng 450 $a acidúria arginínsukcinátová $5 e $8 slo 450 $a deficit arginínsukcinázy $5 e $8 slo 450 $a deficit ASA $5 e $8 slo 450 $a deficiencia ASL $5 e $8 slo 450 $a acidémia arginínjantárová $5 e $8 slo 450 $a deficit arginínsukcinátlyázy $5 e $8 slo 450 $a deficit arginínsukcinát-CoA lyázy $5 e $8 slo 450 $a porucha syntézy močoviny, vrodená, arginínjantárový typ $5 e $8 slo 450 $a porucha močovinového cyklu, arginínsukcinátový typ $5 e $8 slo 550 $3 sllk_un_auth*d001123 $Y Argininosuccinate Lyase $5 B $a arginínsukcinátlyáza 550 $3 sllk_un_auth*d001123 $Y Argininosuccinate Lyase $5 F $a arginínsukcinátlyáza 686 $a C10.228.140.163.100.937.124 686 $a C16.320.565.100.940.124 686 $a C16.320.565.189.937.124 686 $a C18.452.132.100.937.124 686 $a C18.452.648.100.940.124 686 $a C18.452.648.189.937.124 750 $a Argininosuccinic Aciduria $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20100406 801 -2
$a SK $b BA006 $c 20210108 980 $x M
Number of the records: 1