Glucose Metabolism and Pancreatic Defects in Spinal Muscular Atrophy

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 metab...

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Bibliografske podrobnosti
izdano v:Ann Neurol
Main 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
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4334584/
https://ncbi.nlm.nih.gov/pubmed/22926856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23582
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