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Metabolite
Person
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Person
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Jakub Krijt
External person at First Faculty of Medicine
89 publications
Publications
publication
The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers
2013 |
First Faculty of Medicine
publication
The Cysteine Dioxgenase Knockout Mouse: Altered Cysteine Metabolism in Nonhepatic Tissues Leads to Excess H2S/HS- Production and Evidence of Pancreatic and Lung Toxicity
2013 |
First Faculty of Medicine
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.
2011 |
First Faculty of Medicine
publication
Neurotransmitter disorders in childhood and differential diagnosis
2010 |
First Faculty of Medicine
publication
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
2008 |
First Faculty of Medicine
publication
Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease
2003 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.
2000 |
Faculty of Physical Education and Sport
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
First Faculty of Medicine, Faculty of Science
publication
Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
2021 |
First Faculty of Medicine, Faculty of Mathematics and Physics
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