ℹ️
🇬🇧
Search
Search for people relevant for "polish patients"
polish patients
Person
Class
Person
Publication
Programmes
Jakub Krijt
External person at First Faculty of Medicine
89 publications
Publications
publication
D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.
2008 |
First Faculty of Medicine
publication
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
2008 |
First Faculty of Medicine
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
publication
High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats
2021 |
First Faculty of Medicine, Faculty of Science
publication
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
2021 |
First Faculty of Medicine
publication
Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B-12)-Dependent Level of Methylmalonic Acid
2021 |
First Faculty of Medicine
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science, Second Faculty of Medicine
publication
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria
2020 |
First Faculty of Medicine
publication
Metabolism of sulfur compounds in homocystinurias
2019 |
First Faculty of Medicine
Load more publications (79)
Loading network view...