Publikace
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | 1. lékařská fakulta
- Prosaposin deficiency due to 1BP deletion in SAP B domain: The evidence for functional SAP A deficiency due to nonsense-mediated decayPublikace bez příslušnosti k fakultě
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublikace bez příslušnosti k fakultě
- Pozdní diagnóza mukopolysacharidózy I. typu u dívky s kontrakturami rukou2023 | 1. lékařská fakulta
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | 1. lékařská fakulta, 3. lékařská fakulta
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | 1. lékařská fakulta
- Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic2021 | 1. lékařská fakulta, 2. lékařská fakulta
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease2019 | 1. lékařská fakulta, 2. lékařská fakulta
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