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Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report
BACKGROUND: 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 popul...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082720/ https://www.ncbi.nlm.nih.gov/pubmed/35603335 http://dx.doi.org/10.12998/wjcc.v10.i10.3278 |