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Výročný kongres SSIEM (Society for the Study of Inborn Errors of Metabolism)

Authority	Bzdúch, Vladimír (Author)
Title	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
Call number	C 3072
Subj. Headings	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
Form, Genre	abstrakt z kongresu
Language	Slovak
Country	Slovakia
Database	ARTICLES

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Number of the records: 1