Výročný kongres SSIEM (Society for the Study of Inborn Errors of Metabolism) : Jeruzalem, Izrael, 29. august - 1. september 2023 / Vladimír Bzdúch. -- Incomplete contents: Persistent hypertriglyceridemia and liver disease in Roma children with transient infantile hypertriglyceridemia caused by the homozygous mutation c.895 GA in GPD1 gene Jana Saligová ... [et al.] -- Mild phenotype and late onset in molybdenum cofactor deficiency: a novel variant in MOCS2 gene in Roma population Jana Saligová ... [et al.] -- Cerebrotendinous xanthomatosis - clinical manifestation in two Slovak children Katarína Brennerová ... [et al.] -- First two cases of arginase 1 deficiency in Slovakia Vladimír Bzdúch ... [et al.].
In: Pediatria. -- ISSN 1336-863X. -- Roč. 19, č. 2 (2024), s. 90-91.
Society for the Study of Inborn Errors of Metabolism Výročný kongres (2023 : Jeruzalem, Izrael) * poruchy metabolizmu, vrodené * mutácia * hypertriglyceridémia * glycerol-3-fosfátedehydrogenáza (NAD+) * poruchy metabolizmu kovov, vrodené * xantomatóza cerebrotendinózna * choroby mozgu, metabolické vrodené * hyperargininémia * dieťa * Slovensko * abstrakt z kongresu