Počet záznamov: 1
hyperargininémia
SYS d020162 LBL 00000cz--a2200000n--4500 005 20250606213328.2 008 991103|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.937.500 065 $a C16.320.565.100.940.500 065 $a C16.320.565.189.937.500 065 $a C18.452.132.100.937.437 065 $a C18.452.648.100.940.437 065 $a C18.452.648.189.937.437 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a ARG1 Deficiency $2 eng 450 $w v $a Arginase Deficiency $2 eng 450 $w v $a Arginase Deficiency Disease $2 eng 450 $w v $a Argininemia $2 eng 450 $w v $a deficit ARG1 $2 slo 450 $w v $a deficit arginázy $2 slo 450 $w v $a argininémia $2 slo 450 $w v $a choroba z deficitu arginázy $2 slo 550 $7 sllk_us_auth*d001119 $Y Arginase $w b $a argináza 550 $7 sllk_us_auth*d001119 $Y Arginase $w p $a argináza 665 $a 2000 $2 eng 665 $a Amino Acid Metabolism, Inborn Errors (1966-1999) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Hyperargininemia $2 eng 980 $x M
Počet záznamov: 1