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diagnostik
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MUDr. Martin Hřebíček Ph.D.
Academic staff at First Faculty of Medicine
117 publications
Publications
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Therapy and Diagnosis m. Gaucher in Czech Republic
+1
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