Αρχειοθήκη ιστολογίου

Δευτέρα 29 Οκτωβρίου 2018

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

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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