Jakub Krijt Selected Research

Cystathionine

1/2021	Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
1/2020	Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
12/2017	Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
7/2016	Thioethers as markers of hydrogen sulfide production in homocystinurias.
1/2016	Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
3/2015	Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
11/2014	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.
2/2011	Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
2/2011	Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

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Jakub Krijt Research Topics

Disease

16	Homocystinuria 12/2022 - 08/2008
3	Ornithine Carbamoyltransferase Deficiency Disease 11/2019 - 07/2017
2	Hyperammonemia 11/2019 - 06/2018
2	Insulin Resistance 02/2016 - 01/2013
2	Metabolic Syndrome (Dysmetabolic Syndrome X) 02/2016 - 01/2013
2	Hyperhomocysteinemia 01/2013 - 08/2008
2	Type I Xanthinuria 01/2012 - 12/2010
2	Seizures (Absence Seizure) 08/2008 - 01/2007
2	Brain Diseases (Brain Disorder) 08/2008 - 01/2007
1	Ethylmalonic encephalopathy 12/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2022
1	Lens Subluxation 01/2021
1	Megaloblastic Anemia 01/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Phenylketonurias (Phenylketonuria) 01/2019
1	Type II Xanthinuria 01/2018
1	Pancytopenia 01/2018
1	Vasculitis (Vasculitides) 01/2018
1	Osteoporosis 12/2017
1	Perinatal Death 12/2017
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 07/2017
1	Metabolic Diseases (Metabolic Disease) 01/2016
1	Hypoxia (Hypoxemia) 12/2013
1	Urinary Tract Infections (Urinary Tract Infection) 12/2013
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2013
1	Glucose Intolerance 01/2013
1	Hypermethioninemia 11/2012
1	Hemorrhage 10/2010
1	Thromboembolism 10/2010
1	Fibrosis (Cirrhosis) 10/2010
1	Intellectual Disability (Idiocy) 10/2010
1	Vaccinia 03/2009
1	Respiratory Insufficiency (Respiratory Failure) 08/2008
1	Muscle Hypotonia (Hypotonia) 01/2007
1	Hypokinesia (Bradykinesia) 01/2007
1	Coronary Artery Disease (Coronary Atherosclerosis) 07/2003
1	Atherosclerosis 07/2003
1	Hyperlipidemias (Hyperlipidemia) 07/2003
1	Arteriosclerosis 07/2003

Drug/Important Bio-Agent (IBA)

11	HomocysteineIBA 12/2022 - 07/2003
10	EnzymesIBA 12/2017 - 07/2003
9	CystathionineIBA 01/2021 - 02/2011
6	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2018 - 08/2008
5	Cysteine (L-Cysteine)FDA Link 12/2022 - 01/2016
4	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020 - 07/2003
4	Sulfur Amino AcidsIBA 01/2018 - 01/2016
3	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2019 - 07/2017
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021 - 02/2011
2	Methionine (L-Methionine)FDA Link 01/2016 - 11/2014
2	Xanthine DehydrogenaseIBA 01/2012 - 12/2010
2	Adenylosuccinate lyase deficiencyIBA 08/2008 - 01/2007
1	S-sulfohomocysteineIBA 12/2022
1	S-sulphocysteineIBA 12/2022
1	molybdopterin (molybdenum cofactor)IBA 12/2022
1	Sulfite OxidaseIBA 12/2022
1	ThiosulfatesIBA 12/2022
1	Sulfur Compounds (Compounds, Sulfur)IBA 12/2022
1	SulfurIBA 12/2022
1	SulfitesIBA 12/2022
1	Orotic AcidIBA 11/2019
1	AmmoniaIBA 11/2019
1	Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA 06/2018
1	Azathioprine (Imuran)FDA LinkGeneric 01/2018
1	human MOCOS proteinIBA 01/2018
1	2-mercaptopurineIBA 01/2018
1	Urea (Carbamide)FDA LinkGeneric 07/2017
1	lanthionineIBA 07/2016
1	Folate Receptor 1IBA 02/2016
1	heme arginateIBA 03/2015
1	Heme (Haem)IBA 03/2015
1	Hydrogen Sulfide (Sulfide, Hydrogen)IBA 12/2013
1	Cyanides (Isocyanides)IBA 12/2013
1	Congenital disorder of glycosylation type 1AIBA 11/2012
1	Oxidoreductases (Dehydrogenase)IBA 01/2012
1	Allopurinol (Remid)FDA LinkGeneric 01/2012
1	Xanthine OxidaseIBA 01/2012
1	Uric Acid (Urate)IBA 12/2010
1	purineIBA 12/2010
1	Betaine (C.B.B.)FDA Link 10/2010
1	DNA (Deoxyribonucleic Acid)IBA 03/2009
1	Proteins (Proteins, Gene)FDA Link 08/2008
1	Fenofibrate (CiL)FDA LinkGeneric 07/2003

Therapy/Procedure

3	Enzyme Replacement Therapy 01/2020 - 01/2016
2	Therapeutics 01/2018 - 03/2015
1	Enzyme Therapy 01/2020
1	Protein-Restricted Diet (Diet, Protein Restricted) 01/2019
1	Artificial Respiration (Mechanical Ventilation) 01/2007