Lista de obras - Jitka Sokolová - Dominio Público Uruguay

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

artículo científico publicado en 1996

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de julio de 1997

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

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

artículo científico publicado en 2012

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

artículo científico publicado en 1996

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

artículo científico publicado en 2001

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 1997

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 1998

Thioethers as markers of hydrogen sulfide production in homocystinurias.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Lista de obras de Jitka Sokolová

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

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

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

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

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

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

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

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

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

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

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

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

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

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

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

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

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

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

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

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

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

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

Thioethers as markers of hydrogen sulfide production in homocystinurias.

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