The infantile-onset form of Pompe disease: an autopsy diagnosis

• Hoofdauteur: Otávio César Cruz dos Santos (Auteur)
• Formaat: Boek
• Gepubliceerd in: University of São Paulo, 2015-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...