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List of works by Marie Zikánová

Adenylosuccinate lyase deficiency.

scientific article

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

scientific article

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.

scientific article published on 24 August 2016

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

scientific article published on 3 June 2008

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders

scientific article published on 12 January 2013

Mass spectrometric analysis of purine de novo biosynthesis intermediates

scientific article published in PLoS ONE

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

scientific article published on 25 June 2010

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

scientific article published on 23 October 2014

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

scientific article published on 30 July 2018

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

scientific article published on 30 October 2013

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