Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

Adult late-onset Pompe disease is most often a slowly progressive limb-girdle and spine extensor muscle dystrophy, due to defective lysosomal acid maltase. With the exception of the few patients who present with a dramatically accelerated clinical course, standard diagnostic imaging fail to detect a...

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Bibliografske podrobnosti
izdano v:J Inherit Metab Dis
Main Authors: Carlier, Pierre G., Azzabou, Noura, de Sousa, Paulo Loureiro, Hicks, Arnaud, Boisserie, Jean-Marc, Amadon, Alexis, Carlier, Robert-Yves, Wary, Claire, Orlikowski, David, Laforêt, Pascal
Format: Artigo
Jezik:Inglês
Izdano: Springer Netherlands 2015
Teme:
Glycogenoses
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4432102/
https://ncbi.nlm.nih.gov/pubmed/25749708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9825-9
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