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The infantile-onset form of Pompe disease: an autopsy diagnosis
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends o...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757919/ https://www.ncbi.nlm.nih.gov/pubmed/26894045 http://dx.doi.org/10.4322/acr.2015.022 |