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