Vaclava Skopova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 19 publications

The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap.

The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap.

Journal: Nucleosides, nucleotides & nucleic acids

Published: June 25, 2026

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram.

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram.

Journal: Molecular genetics and metabolism

Published: April 21, 2026

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Journal: Prenatal diagnosis

Published: November 28, 2025

Mechanistic modeling of recessive disease through allelic integration of variant effects.

Mechanistic modeling of recessive disease through allelic integration of variant effects.

Journal: Cell systems

Published: June 18, 2025

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Journal: Journal of inherited metabolic disease

Published: February 17, 2025

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

Journal: European journal of human genetics : EJHG

Published: July 12, 2024

Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.

Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.

Journal: Clinical chemistry and laboratory medicine

Published: December 02, 2022

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.

Journal: Metabolites

Published: October 10, 2022

Pathway-specific effects of ADSL deficiency on neurodevelopment.

Pathway-specific effects of ADSL deficiency on neurodevelopment.

Journal: eLife

Published: May 26, 2021

Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment.

Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment.

Journal: Folia biologica

Published: October 23, 2019

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Journal: Human molecular genetics

Published: August 02, 2019

Mass spectrometric analysis of purine de novo biosynthesis intermediates.

Mass spectrometric analysis of purine de novo biosynthesis intermediates.

Journal: PloS one

Published: September 20, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026