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prosaposin
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MUDr. Martin Hřebíček Ph.D.
Academic staff at First Faculty of Medicine
117 publications
Publications
publication
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations
2009 |
First Faculty of Medicine
publication
Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient
2005 |
First Faculty of Medicine
publication
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 accumulation
2001 |
First Faculty of Medicine
publication
Prosaposin deficiency due to 1BP deletion in SAP B domain: The evidence for functional SAP A deficiency due to nonsense-mediated decay
Publication without faculty affiliation
publication
1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiency
Publication without faculty affiliation
publication
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease
2022 |
First Faculty of Medicine
publication
Advances in treatment of lysosomal storage diseases
2022 |
First Faculty of Medicine
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics
2020 |
First Faculty of Medicine
publication
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
First Faculty of Medicine, Central Library of Charles University
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