Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges...
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Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
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Ετικέτες
Δευτέρα 29 Οκτωβρίου 2018
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
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