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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.

BACKGROUND: A 30-year-old woman with celiac sprue had progressive weight loss, myalgia, limb-girdle weakness, and dysphagia. METHODS AND RESULTS: Barium swallow showed an atonic esophagus, and scintigraphic study confirmed esophageal dysmotility. Skeletal muscle biopsy showed characteristic appearances of acid maltase deficiency, which was confirmed by a reduction of leukocyte acid alpha-glucosidase activity. CONCLUSIONS: Nutritional factors may have accelerated the presentation of the lysosomal storage disorder. This is the first reported case of dysphagia caused by esophageal motor weakness in acid maltase deficiency.[1]

References

  1. Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue. King, T.S., Anderson, J.R., Wraight, E.P., Hunter, J.O., Cox, T.M. JPEN. Journal of parenteral and enteral nutrition. (1997) [Pubmed]
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