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acute hepatic porphyrias
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EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
2020 |
First Faculty of Medicine
publication
Varied psychiatric and neurologic manifestations of acute hepatic porphyrias, metabolic genetic disorders of heme bisynthesis
Publication without faculty affiliation
publication
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
2019 |
First Faculty of Medicine
publication
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
2009 |
First Faculty of Medicine
publication
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
2009 |
Publication without faculty affiliation
publication
De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study
2006 |
First Faculty of Medicine