Concepedia

Delayed or late-onset type II glycogenosis with globular inclusions

Mehar C. Sharma, Christoph Schultze, Arpad von Moers, Gisela Stoltenburg‐Didinger, Yoon S. Shin, Teodor Podskarbi, Klaus Isenhardt, Dominique S. Tews, Hans H. Goebel

Acta Neuropathologica · 2005 · 30 citations · 15 references

DOI

Concepts

References

15

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

M.L.C. Hagemans · Brain · 2005 · 366 citations · Full text

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Juvenile and adult-onset acid maltase deficiency in France

Pascal Laforêt, Marc Nicolino, B. Eymard et al. · Neurology · 2000 · 215 citations

, , +16

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

M.L. Hule, Angela Chen, Seiichi Tsujino et al. · Human Molecular Genetics · 1994 · 167 citations

, , +16

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

M M Hermans, Dik van Leenen, Marian A. Kroos et al. · Human Mutation · 2003 · 152 citations

, , +15

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Cornelius F. Boerkoel, R Exelbert, Catherine Nicastri et al. · PubMed · 1995 · 133 citations

, , +13