Počet záznamov: 1
hyperargininémia
SYS d020162 LBL 00000cx--j2200000---45-- 005 20240119201348.8 100 $a 19991103asloy0103----ba0 152 $b mesh 250 $a hyperargininémia $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 (1966-1999) $8 eng 330 1-
$a A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51) $8 eng 450 $a ARG1 Deficiency $5 e $8 eng 450 $a Arginase Deficiency $5 e $8 eng 450 $a Arginase Deficiency Disease $5 e $8 eng 450 $a Argininemia $5 e $8 eng 450 $a deficit ARG1 $5 e $8 slo 450 $a deficit arginázy $5 e $8 slo 450 $a argininémia $5 e $8 slo 450 $a choroba z deficitu arginázy $5 e $8 slo 550 $3 sllk_un_auth*d001119 $Y Arginase $5 B $a argináza 550 $3 sllk_un_auth*d001119 $Y Arginase $5 F $a argináza 686 $a C10.228.140.163.100.937.500 686 $a C16.320.565.100.940.500 686 $a C16.320.565.189.937.500 686 $a C18.452.132.100.937.437 686 $a C18.452.648.100.940.437 686 $a C18.452.648.189.937.437 750 $a Hyperargininemia $8 eng 801 -0
$a US $b DNLM $c 19991103 801 -2
$a SK $b BA006 $c 20001026 801 -2
$a SK $b BA006 $c 20101220 980 $x M
Počet záznamov: 1