Concepedia

Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?

Wim J. Kleijer, Magna Van der Kraan, Marian A. Kroos, J.E.M. Groener, Otto P. van Diggelen, Arnold Reuser, Ans T. van der Ploeg

Pediatric Research · 1995 · 32 citations · 4 references

DOI

Concepts

References

4

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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GLYCOGEN STORAGE DISEASE

The Medical Journal of Australia · 1952 · 152 citations

Receptor-Mediated Uptake of Acid α-Glucosidase Corrects Lysosomal Glycogen Storage in Cultured Skeletal Muscle

Ans T. van der Ploeg, Maarten J. J. E. Loonen, P. A. Bolhuis et al. · Pediatric Research · 1988 · 43 citations

, , +9

A family with pseudodeficiency of acid α‐glucosidase

Junji Nishimoto, Koji Inui, Shintaro Okada et al. · Clinical Genetics · 1988 · 11 citations

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