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enzyme replacement therapy
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Anthony Bleyer MD
Person without affiliation with CUNI
28 publications
Publications
publication
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022
2023 |
First Faculty of Medicine, Centre for Knowledge and Technology Transfer
publication
Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease
2023 |
First Faculty of Medicine
publication
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
2023 |
First Faculty of Medicine
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
First Faculty of Medicine
publication
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis
2023 |
First Faculty of Medicine
publication
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice
2023 |
First Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1 beta
2022 |
First Faculty of Medicine
publication
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 |
First Faculty of Medicine
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