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Practice Guideline

Pompe disease diagnosis and management guideline

Priya S Kishnani et al. Genet Med. 2006 May.

Erratum in

  • Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]
No abstract available

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Figures

Fig. 1
Fig. 1
Diagnostic algorithm for infantile onset Pompe disease.
Fig. 2
Fig. 2
Diagnostic algorithm for late onset (> 1 year) Pompe disease.
See this image and copyright information in PMC

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References

    1. Hers HG. Alpha-Glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease) Biochem J. 1963;86:11–16. - PMC - PubMed
    1. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Beaudet A, Scriver C, Sly W, et al., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill; 2001. pp. 3389–3420.
    1. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004;144:S35–S43. - PubMed
    1. Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdshr Geneeskd. 1932;76:304.
    1. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112:332–340. - PubMed

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