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Article

Pompe's disease.

Lancet (London, England) - 11 Oct 2008

van der Ploeg Ans T, Reuser Arnold J J

Abstract excerpt

Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory...

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PMID: 18929906
DOI: 10.1016/S0140-6736(08)61555-X

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