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- W2902198074 abstract "Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some uncommon clinical features e.g. skeletal alterations and developmental delay, and describe a new genetic variant. Juvenile-onset Pompe disease may be accompanied by uncommon clinical signs that could delay the diagnosis of Pompe disease due to the global pictures resembling other metabolic disorders." @default.
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- W2902198074 date "2019-03-01" @default.
- W2902198074 modified "2023-09-26" @default.
- W2902198074 title "Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease" @default.
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- W2902198074 doi "https://doi.org/10.1016/j.nmd.2018.11.013" @default.
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