Article
Glucose metabolism and pancreatic defects in spinal muscular atrophy.
Annals of neurology - 1 Aug 2012
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 excerpt
OBJECTIVE: 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...
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