2007-08-01
Muscular glycogen storage diseases without increased glycogen content on histopathological examination
Publication
Publication
Molecular Genetics and Metabolism , Volume 91 - Issue 4 p. 370- 373
Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. It can be concluded that non-specific findings or even normal appearance of a muscle biopsy does not exclude mGSD.
| Additional Metadata | |
|---|---|
| , , , , | |
| doi.org/10.1016/j.ymgme.2007.04.012, hdl.handle.net/1765/36615 | |
| Molecular Genetics and Metabolism | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
|
Hoeksma, M., den Dunnen, W., van Diggelen, O., Niezen-Koning, K. E., & van Spronsen, F. J. (2007). Muscular glycogen storage diseases without increased glycogen content on histopathological examination. Molecular Genetics and Metabolism, 91(4), 370–373. doi:10.1016/j.ymgme.2007.04.012 |
|