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Tomas Majtan Selected Research

Homocystinuria

9/2020Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
6/2020Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
1/2020Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
11/2019Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.
5/2018Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria.
1/2018Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria.
1/2018Crystal structure of cystathionine β-synthase from honeybee Apis mellifera.
1/2018Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
1/2018Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
12/2017Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
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Tomas Majtan Research Topics

Disease

21Homocystinuria
09/2020 - 05/2010
2Hypermethioninemia
09/2020 - 01/2020
2Hyperhomocysteinemia
09/2020 - 01/2020
2Inborn Genetic Diseases (Disease, Hereditary)
01/2013 - 05/2010
1Down Syndrome (Down's Syndrome)
01/2022
1Stroke (Strokes)
01/2020
1Liver Diseases (Liver Disease)
01/2020
1Thrombosis (Thrombus)
01/2020
1Vascular Diseases (Vascular Disease)
01/2020
1Hemorrhage
01/2020
1Propionic Acidemia
01/2018
1Osteoporosis
12/2017
1Perinatal Death
12/2017
1Metabolic Diseases (Metabolic Disease)
01/2016
1Wounds and Injuries (Trauma)
09/2013
1Inflammation (Inflammations)
09/2013

Drug/Important Bio-Agent (IBA)

8Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
06/2020 - 05/2010
8HomocysteineIBA
01/2020 - 09/2014
7Sulfur Amino AcidsIBA
01/2018 - 11/2012
6CystathionineIBA
01/2022 - 12/2012
4Proteins (Proteins, Gene)FDA Link
09/2020 - 04/2012
4EnzymesIBA
06/2020 - 01/2016
3Methionine (L-Methionine)FDA Link
09/2020 - 01/2016
3Cysteine (L-Cysteine)FDA Link
12/2017 - 01/2016
2SulfurIBA
06/2020 - 10/2013
2S-Adenosylmethionine (Ademetionine)IBA
01/2018 - 07/2016
2LigandsIBA
01/2016 - 01/2013
1Hydrogen Sulfide (Sulfide, Hydrogen)IBA
01/2022
1Betaine (C.B.B.)FDA Link
09/2020
1Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA
01/2018
1FlavonoidsIBA
09/2013
1Peptide Hydrolases (Proteases)FDA Link
09/2013
1Matrix Metalloproteinase 9 (Gelatinase B)IBA
09/2013
1Pyridoxine (Pyridoxin)FDA LinkGeneric
05/2010

Therapy/Procedure

6Enzyme Replacement Therapy
01/2020 - 01/2016
3Enzyme Therapy
09/2020 - 01/2020
2Therapeutics
01/2020 - 07/2016