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Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

The Journal of nutrition, 2020-10, Vol.150 (Suppl 1), p.2506S-2517S

2020

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Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Current opinion in clinical nutrition and metabolic care, 2021-01, Vol.24 (1), p.62-70

2021

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Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria

British journal of pharmacology, 2023-02, Vol.180 (3), p.264-278

2023

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Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

Human mutation, 2020-09, Vol.41 (9), p.1662-1670

2020

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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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Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC–MS/MS and evaluation of their stability in mice tissues

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2009-07, Vol.877 (22), p.2061-2066

2009

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CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

Human genetics, 2015-03, Vol.134 (3), p.291-303

2015

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Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

Journal of inherited metabolic disease, 2024-06, Vol.47 (5), p.841-859

2024

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Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Clinica chimica acta, 2014-11, Vol.437, p.211-217

2014

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Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1

Biochemical journal, 2012-04, Vol.443 (2), p.535-547

2012

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.21-48

2017

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Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.39-48

2011

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Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method

Free radical biology & medicine, 2019-05, Vol.136, p.146-158

2019

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Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice

Human mutation, 2008-08, Vol.29 (8), p.1048-1054

2008

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Journal of Inherited Metabolic Disease, 2017-01, Vol.40 (1), p.49-74

2017

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A key leader in homocystinuria research: Jan P. Kraus (1942–2019)

Human mutation, 2019-11, Vol.40 (11), p.1909-1909

2019

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Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1064-1076

2019

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Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis

Biochimica et biophysica acta, 2013-12, Vol.1834 (12), p.2691-2701

2013

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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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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Journal of Inherited Metabolic Disease, 2015-11, Vol.38 (6), p.1007-1019

2015

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Jan Kraus PhD., Professor of Pediatrics at the University of Colorado Anschutz Medical Campus, Aurora, CO, USA (b London, UK, June 5, 1942; q 1965 Faculty of Science Prague, d July 4, 2019, CO, USA)

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.379-380

2020

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Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

Human mutation, 2016-05, Vol.37 (5), p.427-438

2016

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Emerging therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria

British journal of pharmacology, 2022-12, Vol.180 (3), p.264-278

2022

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Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

Handbook of experimental pharmacology, 2018, Vol.245, p.345-383

2018

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Chemical chaperone rescue of mutant human cystathionine β-synthase

Molecular genetics and metabolism, 2007-08, Vol.91 (4), p.335-342

2007

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Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria

Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

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

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC–MS/MS and evaluation of their stability in mice tissues

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method

Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

A key leader in homocystinuria research: Jan P. Kraus (1942–2019)

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis

Metabolism of sulfur compounds in homocystinurias

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Jan Kraus PhD., Professor of Pediatrics at the University of Colorado Anschutz Medical Campus, Aurora, CO, USA (b London, UK, June 5, 1942; q 1965 Faculty of Science Prague, d July 4, 2019, CO, USA)

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

Emerging therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

Chemical chaperone rescue of mutant human cystathionine β-synthase

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