Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French 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

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

Michael Krawczak, D.N. Cooper · Human Genetics · 1991 · 486 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The spectrum and diagnosis of acid maltase deficiency

Andrew G. Engel, Manuel R. Gómez, Marjorie E. Seybold et al. · Neurology · 1973 · 256 citations

Life Sciences, Biochemistry, Molecular Biology +8

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