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List of works by Jitka Sokolová

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

scientific article published on 01 November 1996

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

scientific article published on 01 July 2017

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199 ⬇️

scientific article published on July 1, 1997

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

scientific article published on 6 September 2017

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

scientific article published on 31 October 2008

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

scientific article

Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes

scientific article published in October 1996

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

scientific article published in December 2001

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity

scientific article published on July 2010

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

scientific article published on March 2007

Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats

scientific article published on January 2013

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

scientific article published in April 1997

Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome

scientific article published on 14 December 2015

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

scientific article published on 2 June 2015

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

scientific article

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria

scientific article

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

scientific article

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration

scientific article

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

scientific article published on 13 June 2012

The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype

scientific article published on 01 October 2004

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms

scientific article published in September 1998

Thioethers as markers of hydrogen sulfide production in homocystinurias.

scientific article published on 11 January 2016

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

scientific article published on 6 April 2018

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