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Authors whose works are in public domain in at least one jurisdiction

List of works by Karolína Pešková

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

scientific article published on 24 November 2016

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

scientific article published on 01 February 2001

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

scientific article published on 7 February 2013

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

scientific article published on 31 July 2014

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

scientific article published on 04 October 2011

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