CONSENSUS TREATMENT RECOMMENDATIONS FOR LATE-ONSET POMPE DISEASE

INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHO...

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Hauptverfasser: Cupler, Edward J., Berger, Kenneth I., Leshner, Robert T., Wolfe, Gil I., Han, Jay J., Barohn, Richard J., Kissel, John T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534745/
https://ncbi.nlm.nih.gov/pubmed/22173792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.22329
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