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...

https://ift.tt/2EPBhwb

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου