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- W4220862015 abstract "Pompe disease has a broad disease spectrum, including infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) forms. It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease, for an estimated incidence of 1/40000 among the neonatal population. In severe cases, the natural course is characterized by death due to cardiopulmonary failure in the first year after birth. However, the clinical outcomes have improved since the emergence of enzyme replacement therapy (ERT) was widely used.The reported female case in China was an atypical IOPD, which demonstrates an unusual presentation of glycogen accumulation syndrome type II without obvious skeletal muscle involvement, and reviewed physical examination, biochemical examinations, chest radiograph, and acid α-glucosidase (GAA) mutation analysis. After 4-mo specific ERT, the case received 12-mo follow-up. Moreover, the patient has obtained a very good prognosis under ERT.For the atypical IOPD patients, early diagnosis and treatment may contribute to good prognosis." @default.
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- W4220862015 date "2022-04-06" @default.
- W4220862015 modified "2023-09-26" @default.
- W4220862015 title "Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report" @default.
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- W4220862015 doi "https://doi.org/10.12998/wjcc.v10.i10.3278" @default.
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