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Examination of a Case of Suspected McArdle's Syndrome by31P Nuclear Magnetic Resonance
Abstract
McARDLE'S syndrome,1 an inborn error of metabolism caused by a lack of glycogen phosphorylase activity in skeletal muscle, is a recessive condition of some rarity.2 Nevertheless, it poses a constant problem in the differential diagnosis of all forms of muscular disorder. Patients usually present with this condition after a long history of inability to sustain exercise; the diagnosis is suggested by the demonstration that ischemic exercise (the forearm-exercise test2) fails to generate lactic acid, and it is confirmed after open-muscle biopsy by the histochemical demonstration of excess glycogen and absent phosphorylase. A conclusive diagnosis and further clarification of various . . .
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Citations
Cited by
Thulborn, K. R., Waterton, J. C., Matthews, P. M., & Radda, G. K. (1982) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(82)90333-6 · Cited by 1,134
Self-citationArnold, D. L., Matthews, P. M., & Radda, G. K. (1984) · Magnetic Resonance in Medicine · doi:10.1002/mrm.1910010303 · Cited by 442
Self-citationFleischman, A., Johnsen, S., Systrom, D. M., Hrovat, M., Farrar, C. T., Frontera, W., Fitch, K., Thomas, B. J., Torriani, M., Côté, H. C. F., et al. (2007) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00550.2006 · Cited by 160
Miller, R. G., Boska, M. D., Moussavi, R. S., Carson, P. J., & Weiner, M. W. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113434 · Cited by 136
Rico‐Sanz, J., Hajnal, J. V., Thomas, E. L., Mierisová, Ŝ., Ala‐Korpela, M., & Bell, J. D. (1998) · The Journal of Physiology · doi:10.1111/j.1469-7793.1998.615bk.x · Cited by 88
Metadata
- Authors
- Ross, B. D., Radda, G. K., Gadian, D. G., Rocker, G., Esiri, M., & Falconer-Smith, J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1981-05-28
- Volume
- 304
- Issue
- 22
- Pages
- 1338-1342
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2010425062
- Cited by
- 427
- References
- 0
- FWCI
- 45.59
- Type
- journal article
- Language
- en
- Open access
- closed
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- Ross, B. D., Radda, G. K., Gadian, D. G., Rocker, G., Esiri, M., & Falconer-Smith, J. (1981). Examination of a Case of Suspected McArdle's Syndrome by31P Nuclear Magnetic Resonance. New England Journal of Medicine. https://doi.org/10.1056/nejm198105283042206
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
