Number of the records: 1
citrulinémia
SYS d020159 LBL 00000cx--j2200000---45-- 005 20240119201348.7 100 $a 19991103asloy0103----ba0 152 $b mesh 250 $a citrulinémia $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 2000 $8 eng 300 1-
$a Amino Acid Metabolism, Inborn Errors (1965-1999) $8 eng 300 1-
$a Argininosuccinate Synthase/deficiency (1975-1999) $8 eng 330 1-
$a A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) $8 eng 450 $a ASS Deficiency $5 e $8 eng 450 $a Argininosuccinate Synthase Deficiency Disease $5 e $8 eng 450 $a Argininosuccinate Synthetase Deficiency $5 e $8 eng 450 $a Argininosuccinic Acid Synthetase Deficiency $5 e $8 eng 450 $a Citrullinemia 1 $5 e $8 eng 450 $a Citrullinemia Type 1 $5 e $8 eng 450 $a Citrullinemia, Classic $5 e $8 eng 450 $a Deficiency Disease, Argininosuccinate Synthase $5 e $8 eng 450 $a Deficiency Disease, Argininosuccinic Acid Synthase $5 e $8 eng 450 $a choroba z deficitu arginínsukcinátsyntázy $5 e $8 slo 450 $a choroba z deficitu arginínsukcinátsyntetázy $5 e $8 slo 450 $a deficit ASS $5 e $8 slo 450 $a citrulinémia 1 $5 e $8 slo 450 $a citrulinémia, typ 1 $5 e $8 slo 450 $a citrulinémia klasická $5 e $8 slo 550 $3 sllk_un_auth*d001124 $Y Argininosuccinate Synthase $5 B $a arginínsukcinátsyntáza 550 $3 sllk_un_auth*d001124 $Y Argininosuccinate Synthase $5 F $a arginínsukcinátsyntáza 686 $a C10.228.140.163.100.937.374 686 $a C16.320.565.100.940.374 686 $a C16.320.565.189.937.374 686 $a C18.452.132.100.937.374 686 $a C18.452.648.100.940.374 686 $a C18.452.648.189.937.374 750 $a Citrullinemia $8 eng 801 -0
$a US $b DNLM $c 19991103 801 -2
$a SK $b BA006 $c 20001117 801 -2
$a SK $b BA006 $c 20101215 980 $x M
Number of the records: 1