A new look at an old disease: Is Pompe disease a neuromuscular disorder with CNS involvement?
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DOI: 10.1016/j.ymgme.2019.11.230
Abstract: manifestations that are markedly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental deterioration (29.41%). Genetic analysis of 25 patients… read more here.
Keywords: look old; disease pompe; new look; old disease ... See more keywords