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Tay-Sachs disease
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MUDr. Jiří Gurka
External person at First Faculty of Medicine, Central Library of Charles University
2 publications
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publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
2020 |
Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
publication
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
Central Library of Charles University, First Faculty of Medicine
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