Jitka Sokolova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 24 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

Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.

Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.

Journal: International journal of neonatal screening

Published: February 06, 2026

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Journal: Journal of inherited metabolic disease

Published: October 21, 2024

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Journal: Redox biology

Published: February 29, 2024

Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression.

Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression.

Journal: Redox biology

Published: February 27, 2024

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Journal: Redox biology

Published: September 30, 2022

Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism.

Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism.

Journal: Aging cell

Published: May 02, 2022

Elevated homocysteine levels: What inborn errors of metabolism might we be missing?

Elevated homocysteine levels: What inborn errors of metabolism might we be missing?

Journal: American journal of medical genetics. Part A

Published: February 04, 2022

High cysteine diet reduces insulin resistance in SHR-CRP rats.

High cysteine diet reduces insulin resistance in SHR-CRP rats.

Journal: Physiological research

Published: September 10, 2021

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Journal: Journal of inherited metabolic disease

Published: October 15, 2020

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

Journal: Blood

Published: April 11, 2020

Dissecting the role of Folr1 and Folh1 genes in the pathogenesis of metabolic syndrome in spontaneously hypertensive rats.

Dissecting the role of Folr1 and Folh1 genes in the pathogenesis of metabolic syndrome in spontaneously hypertensive rats.

Journal: Physiological research

Published: August 17, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026