Publikace
- A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family2007 | 1. lékařská fakulta
- De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study2006 | 1. lékařská fakulta
- Novel mutation in Porphobilinogen deaminase gene in a family with acute intermittent porphyria from NepalPublikace bez příslušnosti k fakultě
- Molecular analysis of the porphobilinogen deaminase gene in newly (2004) diagnozed Czech and Slovak acute intermittent porphyria patients: Report of three novel mutationsPublikace bez příslušnosti k fakultě
- Novel mutations in the porphobilinogen deaminase gene in Czech and Slovak acute intermittent porphyria patientsPublikace bez příslušnosti k fakultě
- Acute intermittent porphyria: identification of three novel mutations in the porphobilinogen deaminase gene in Czech and Slovak patientsPublikace bez příslušnosti k fakultě
- Novel mutations in the porphobilinogen deaminase gene in Czech acute intermittent porphyria patiensPublikace bez příslušnosti k fakultě
- Low Birth Weight is Associated witj More Severe Course of Steroid-Sensitive Nephrotic Syndrome in Children, Multicentric Study2024 | 1. lékařská fakulta, 2. lékařská fakulta, Přírodovědecká fakulta, Lékařská fakulta v Hradci Králové, Lékařská fakulta v Plzni
- Low Birth Weight is Associated with More Severe Course of Steroid-Sensitive Nephrotic Syndrome in Children, Multicentric Study2024 | 2. lékařská fakulta, Přírodovědecká fakulta
- Abnormal kidney ultrasound and function in a five-year-old boy born prematurely with a birth weight of 370 grams2023 | 2. lékařská fakulta, 3. lékařská fakulta
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