Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

Number of the records: 1

Title	Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
Author	Brennerová Katarína
Co-authors	Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ^SCOPUS ^RID ^ORCID
	Ostrožlíková Mária
	Šaligová J.
	Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV
	Bzdúch Vladimír
	Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ^SCOPUS ^RID ^ORCID

Source document	BMC Pediatrics. Vol. 21 (2021), art. no. 578
Language	eng - English
Note	open access
URL	URL link
Document kind	rozpis článkov z periodík (rzb)
Citations	PRIYA, N.M. - KUMAR, S.U. - KUMAR, D.T. - MAGESH, R. - SIVA, R. - GNANASAMBANDAN, R. - DOSS, C.G.P. Deciphering the effect of mutations in MMAA protein causing methylmalonic acidemia-A computational approach. In DISORDERS OF PROTEIN SYNTHESIS, VOL. 132. ISSN 1876-1623, 2022, p. 199-220. Dostupné na: https://doi.org/10.1016/bs.apcsb.2022.07.003.
Category	ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	článok
Year	2021
Registered in	WOS
Registered in	SCOPUS
Registered in	CCC
DOI	10.1186/s12887-021-03067-3

article

	File name	Access	Size	Downloaded	Type	License
	Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria.pdf	available	1.2 MB	2	Publisher's version

rok	CC	IF	IF Q (best)	JCR Av Jour IF Perc	SJR	SJR Q (best)	CiteScore
	A

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2021	2020	2.125	Q3	0.806	Q1

Number of the records: 1