Počet záznamov: 1
acidémia propiónová
SYS d056693 LBL 00000cx--j2200000---45-- 005 20240119201504.8 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a acidémia propiónová $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 Methylmalonyl-CoA Decarboxylase (1981-2009) $8 eng 330 1-
$a Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia. $8 eng 450 $a Glycinemia, Ketotic $5 e $8 eng 450 $a Ketotic Glycinemia $5 e $8 eng 450 $a Ketotic Hyperglycinemia $5 e $8 eng 450 $a PCC Deficiency $5 e $8 eng 450 $a Propionicacidemia $5 e $8 eng 450 $a Propionyl-CoA Carboxylase Deficiency $5 e $8 eng 450 $a acidémia propionická $5 e $8 slo 450 $a glycinémia ketotická $5 e $8 slo 450 $a hyperglycinémia s ketoacidózou a leukopéniou $5 e $8 slo 450 $a hyperglycinémia ketotická $5 e $8 slo 450 $a deficit propionyl-CoA karboxylázy $5 e $8 slo 450 $a deficit PCC $5 e $8 slo 450 $a nedostatok PCC $5 e $8 slo 450 $a acidúria propionická $5 e $8 slo 450 $a propionacidémia $5 e $8 slo 450 $a propionacidúria $5 e $8 slo 450 $a deficiencia propionyl-CoA karboxylázy $5 e $8 slo 550 $3 sllk_un_auth*d043586 $Y Methylmalonyl-CoA Decarboxylase $5 B $a metylmalonyl-CoA-dekarboxyláza 550 $3 sllk_un_auth*d043586 $Y Methylmalonyl-CoA Decarboxylase $5 F $a metylmalonyl-CoA-dekarboxyláza 686 $a C16.320.565.100.823 686 $a C18.452.648.100.823 750 $a Propionic Acidemia $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20101020 801 -2
$a SK $b BA006 $c 20210108 980 $x M
Počet záznamov: 1