Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy

Case Description A 16 year old boy diagnosed with myoclonic epilepsy was admitted to our clinic. [...]the age of 14 years, he appeared healthy until generalized jerks started to occur twice a day. Conclusion Although we have not obtained enzymatic and molecular genetic evidence, the fast disease pro...

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Veröffentlicht in:Clinical therapeutics 2011-06, Vol.33 (6), p.S33-S33
Hauptverfasser: Sukhorukov, Vladimir S, Kharlamov, Dmitry A, Dorofeeva, Marina Yu
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Sprache:eng
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