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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

Urolithiasis, 2015-10, Vol.43 (5), p.441-445

2015

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

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.130-134

2023

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Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

Antioxidants & redox signaling, 2018-02, Vol.28 (4), p.311

2018

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

Redox biology, 2024-07, Vol.73, p.103222, Article 103222

2024

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Thioethers as markers of hydrogen sulfide production in homocystinurias

Biochimie, 2016-07, Vol.126, p.14-20

2016

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

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.677-692

2021

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

Clinical chemistry and laboratory medicine, 2017-07, Vol.55 (8), p.1168

2017

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

Human mutation, 2010-07, Vol.31 (7), p.809-819

2010

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Metabolism of sulfur compounds in homocystinurias

British journal of pharmacology, 2019-02, Vol.176 (4), p.594-606

2019

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Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene

The Journal of pediatrics, 2009-03, Vol.154 (3), p.431-437

2009

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Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

The Journal of nutrition, 2012-08, Vol.142 (8), p.1403-1409

2012

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

PloS one, 2014-05, Vol.9 (5), p.e97646-e97646

2014

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Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Human mutation, 2015-06, Vol.36 (6), p.611-621

2015

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Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism

Aging cell, 2022-12, Vol.21 (12), p.e13739-n/a

2022

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Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats

American journal of hypertension, 2013-01, Vol.26 (1), p.135-140

2013

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High cysteine diet reduces insulin resistance in SHR-CRP rats

Physiological research, 2021-11, Vol.70 (5), p.687-700

2021

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

Hypertension (Dallas, Tex. 1979), 2016-02, Vol.67 (2), p.335-341

2016

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

Virchows Archiv : an international journal of pathology, 2018-06, Vol.472 (6), p.1029-1039

2018

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

Blood, 2020-06, Vol.135 (26), p.2427-2431

2020

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

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.611-613

2012

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

Human mutation, 2004-06, Vol.23 (6), p.631-631

2004

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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

American journal of human genetics, 2001-06, Vol.68 (6), p.1506-1513

2001

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Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration: e97646

PloS one, 2014-05, Vol.9 (5)

2014

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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

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

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

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

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

Thioethers as markers of hydrogen sulfide production in homocystinurias

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

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

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

Metabolism of sulfur compounds in homocystinurias

Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

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

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

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism

Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats

High cysteine diet reduces insulin resistance in SHR-CRP rats

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

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

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

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

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 β-Synthase Subunits in Homocystinuria

Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration: e97646

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