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- Title
Glucose metabolism and pancreatic defects in spinal muscular atrophy.
- Authors
Bowerman, Melissa; Swoboda, Kathryn J; Michalski, John-Paul; Wang, Gen-Sheng; Reeks, Courtney; Beauvais, Ariane; Murphy, Kelley; Woulfe, John; Screaton, Robert A; Scott, Fraser W; Kothary, Rashmi
- Abstract
Spinal muscular atrophy (SMA) is the number 1 genetic killer of young children. It is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Although SMA is primarily a motor neuron disease, metabolism abnormalities such as metabolic acidosis, abnormal fatty acid metabolism, hyperlipidemia, and hyperglycemia have been reported in SMA patients. We thus initiated an in-depth analysis of glucose metabolism in SMA.
- Publication
Annals of neurology, 2012, Vol 72, Issue 2, p256
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.23582