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...
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| Format: | Article |
| Language: | English |
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University of São Paulo
2015-12-01
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| Series: | Autopsy and Case Reports |
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| Online Access: | http://www.revistas.usp.br/autopsy/article/view/116312 |