Počet záznamov: 1
Barthov syndróm
SYS d056889 LBL 00000cx--j2200000---45-- 005 20240119201506.6 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a Barthov syndróm $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 330 1-
$a Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. $8 eng 550 $3 sllk_un_auth*d056830 $Y Isolated Noncompaction of the Ventricular Myocardium $5 F $a komora ľavá nekompaktná izolovaná 686 $a C14.240.400.172 686 $a C14.280.400.172 686 $a C16.131.077.121 686 $a C16.131.240.400.172 686 $a C16.320.322.068 686 $a C16.320.565.398.224 686 $a C18.452.584.563.224 686 $a C18.452.648.398.224 750 $a Barth Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -2
$a SK $b BA006 $c 20100408 801 -2
$a SK $b BA006 $c 20140114 980 $x M
Počet záznamov: 1