Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)

Hers Hg · Biochemical Journal · 1963 · 865 citations · Full text

Life Sciences, Biochemistry, Genetics +12

Disorders of Voluntary Muscle

The Medical Journal of Australia · 1965 · 591 citations

Medicine, Anatomy, Neuromuscular Disorders +2

Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex.

L. H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Marian A. Kroos et al. · The EMBO Journal · 1988 · 174 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

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

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +13