Glycogen storage disease type II primary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include genetic counselling, prenatal diagnosis, and screening.

Primary Prevention

Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include:[1]

References

  1. ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check |doi= value (help). PMC 3110959. PMID 16702877.
  2. Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT (1992). "Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate". Prenat Diagn. 12 (3): 169–73. PMID 1589418.
  3. Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L (1985). "Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy". Clin Genet. 27 (5): 479–82. PMID 3891160.
  4. Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ; et al. (1995). "Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?". Pediatr Res. 38 (1): 103–6. doi:10.1203/00006450-199507000-00018. PMID 7478785.



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