MUDr. Kateřina Slabá
Instructor, Department of Pediatrics
Total number of publications: 45
2020
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A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
Frontiers in Genetics, year: 2020, volume: 11, edition: August 2020, DOI
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Herpetic esophagitis in a 7-year-old immunocompetent patient
Gastroenterologie a Hepatologie, year: 2020, volume: 74, edition: 3, DOI
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Neurovyvojová porucha s mentální retardací spojená s genem PPP2R5D: první případ v České republice.
Year: 2020, type: Conference abstract
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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
Frontiers in Genetics, year: 2020, volume: 11, edition: October 2020, DOI
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Pacient s fenylketonurií: současné léčebné možnosti a výhled do budoucnosti
Pediatrie pro praxi, year: 2020, volume: 21, edition: 5, DOI
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Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report
Gastroenterologie a hepatologie, year: 2020, volume: 74, edition: 6, DOI
2019
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Alagillův syndrom-arteriohepatální dysplázie: kazuistika
Pediatria, year: 2019, volume: 14, edition: 4
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CESD (Cholesterol Ester Storage Disease)
Year: 2019, type: Conference abstract
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MicroRNA Biogenesis Pathway Genes Are Deregulated in Colorectal Cancer
International Journal of Molecular Sciences, year: 2019, volume: 20, edition: 18, DOI
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Mutation analysis of ATP7B gene in Czech families with Wilson´s disease.
Year: 2019, type: Conference abstract