Number of the records: 1
Výročný kongres SSIEM (Society for the Study of Inborn Errors of Metabolism)
SYS 0198788 LBL 00000naa--2200000-a-4500 005 20250607182018.5 008 240911s2024----xo-----e------------slo-- 040 $a BA006 $b slo 041 0-
$a slo 044 $a xo $c SK 100 1-
$7 sllk_us_auth*p0052591 $a Bzdúch, Vladimír $u 1. detská klinika LF UK, Detská FNsP, Bratislava $4 aut 245 10
$a Výročný kongres SSIEM (Society for the Study of Inborn Errors of Metabolism) : $b Jeruzalem, Izrael, 29. august - 1. september 2023 / $c Vladimír Bzdúch 505 10
$t Persistent hypertriglyceridemia and liver disease in Roma children with transient infantile hypertriglyceridemia caused by the homozygous mutation c.895 GA in GPD1 gene $r Jana Saligová ... [et al.] -- $t Mild phenotype and late onset in molybdenum cofactor deficiency: a novel variant in MOCS2 gene in Roma population $r Jana Saligová ... [et al.] -- $t Cerebrotendinous xanthomatosis - clinical manifestation in two Slovak children $r Katarína Brennerová ... [et al.] -- $t First two cases of arginase 1 deficiency in Slovakia $r Vladimír Bzdúch ... [et al.] 611 27
$7 sllk_us_auth*0061374 $a Society for the Study of Inborn Errors of Metabolism $e Výročný kongres $d (2023 : $c Jeruzalem, Izrael) 650 12
$7 sllk_us_auth*d008661 $a poruchy metabolizmu, vrodené $2 mesh 650 22
$7 sllk_us_auth*d009154 $a mutácia $2 mesh 650 22
$7 sllk_us_auth*d015228 $a hypertriglyceridémia $2 mesh 650 22
$7 sllk_us_auth*d050536 $a glycerol-3-fosfátedehydrogenáza (NAD+) $2 mesh 650 22
$7 sllk_us_auth*d008664 $a poruchy metabolizmu kovov, vrodené $2 mesh 650 22
$7 sllk_us_auth*d019294 $a xantomatóza cerebrotendinózna $2 mesh 650 22
$7 sllk_us_auth*d020739 $a choroby mozgu, metabolické vrodené $2 mesh 650 22
$7 sllk_us_auth*d020162 $a hyperargininémia $2 mesh 650 22
$7 sllk_us_auth*d002648 $a dieťa $9 C $2 mesh 651 -7
$7 sllk_us_auth*d018154 $a Slovensko $2 mesh 655 -7
$7 sllk_us_auth*d016416 $a abstrakt z kongresu $2 mesh 773 0-
$7 nnas $w sllk_us_cat*0197821 $t Pediatria $x 1336-863X $d Bratislava : A-medi management, 2024 $g Roč. 19, č. 2 (2024), s. 90-91
Number of the records: 1