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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...
Shranjeno v:
| izdano v: | Autopsy and Case Reports |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hospital Universitário da Universidade de São Paulo
2015
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| Teme: | |
| Online dostop: | https://www.redalyc.org/articulo.oa?id=576060831008 |
| Oznake: |
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