Publikace
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | 1. lékařská fakulta
- 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
- 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
- Prosaposin deficiency due to 1BP deletion in SAP B domain: the evidence for functional SAP A deficiency due to nonsense-mediated mRNA decayPublikace bez příslušnosti k fakultě
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Hepatologie2022 | 1. lékařská fakulta, 3. lékařská fakulta, 2. lékařská fakulta, Lékařská fakulta v Plzni, Lékařská fakulta v Hradci Králové
- 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
- Autosomal dominant tubulointerstitial kidney disease: A review2022 | 1. lékařská fakulta
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