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haemochromatosis
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MUDr. Martina Suková
External person at Second Faculty of Medicine
35 publications
Publications
publication
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios
2014 |
Publication without faculty affiliation
publication
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome
2024 |
Second Faculty of Medicine
publication
Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023 |
Second Faculty of Medicine
publication
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Mathematics and Physics
publication
Hydrops fetalis and failure of hematopoietic stem cell transplantation - A long route to the diagnosis of SPTA1-associated hereditary spherocytosis
2022 |
Second Faculty of Medicine, Central Library of Charles University
publication
Secondary hemophagocytic lymphohistiocytosis in SARS-CoV-2 infection
2022 |
Second Faculty of Medicine
publication
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
2020 |
Central Library of Charles University
publication
Fanconi anemia in the Czech Republic: Role of HSCT and long-term follow-up
2020 |
Second Faculty of Medicine
publication
Anémie - když příčinou není sideropenie aneb kdy neléčit železem
2019 |
Publication without faculty affiliation
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