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Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.05.005
Abstract: Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common.…
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Keywords:
hereditary myopathy;
acquired hereditary;
tongue;
atrophy ... See more keywords