Nolting, Kristine ; Park, Julien Heinrich ; Park, Julien H. ; Tegtmeyer, Laura Christina ; Tegtmeyer, Laura ; Zühlsdorf, Andrea ; Grüneberg, Marianne; Rust, Stephan; Reunert, Janine ; Du Chesne, Ingrid; Debus, Volker ; Schulze-Bahr, Eric ; Bahr, Eric Schulze- ; Baxter, Robert C. ; Wada, Yoshinao ; Thiel, Christian ; van Schaftingen, Emile; Fingerhut, Ralph ; Marquardt, Thorsten: Limitations of galactose therapy in phosphoglucomutase 1 deficiency
Inhalt
- Informed consent and ethical approval
- Glycosylation assays
- Cells and tissues
- Enzyme assays and PGM1 western blotting
- Genetic analysis
- IGF ternary complex analysis
- IGFBP-3 mass spectrometry
- Galactose and uridine therapy
- Results
- Patient
- Glycosylation assays
- Enzyme assays and western blotting for PGM1
- Genetic analysis
- Galactose and uridine therapy
- Growth hormone therapy
- IGF ternary complex analysis
- Discussion
- Effects of galactose therapy
- Long QT Syndrome in PGM1 deficiency — first description and possible link with glycosylation
- Growth retardation in PGM1 deficiency — need for further research
- Conclusion
- Declarations
- Funding
- Acknowledgements
- Supplementary data
- References