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16 in total

1. Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

Authors: A H Fensom; P F Benson; S Blunt; S P Brown; T M Coltart
Journal: J Med Genet Date: 1976-04 Impact factor: 6.318

2. Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

Authors: N Zhong; F Martiniuk; S Tzall; R Hirschhorn
Journal: Am J Hum Genet Date: 1991-09 Impact factor: 11.025

3. Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

Authors: N G Beratis; G U LaBadie; K Hirschhorn
Journal: J Clin Invest Date: 1978-12 Impact factor: 14.808

4. Heat-stable protein that stimulates acid alpha-glucosidase.

Authors: N S Radin; A Shukla; G S Shukla; A Sano
Journal: Biochem J Date: 1989-12-15 Impact factor: 3.857

5. Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.

Authors: N Canal; L Frattola; G Pellegrini
Journal: Z Neurol Date: 1972

6. An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.

Authors: N G Beratis; G U LaBadie; K Hirschhorn
Journal: Am J Hum Genet Date: 1980-03 Impact factor: 11.025

7. Latency of some glycosidases of rat liver lysosomes.

Authors: R Burton; J B Lloyd
Journal: Biochem J Date: 1976-12-15 Impact factor: 3.857

Review 8. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential.

Authors: Charles R Roe; Fanny Mochel
Journal: J Inherit Metab Dis Date: 2006 Apr-Jun Impact factor: 4.982

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

Authors: C F Boerkoel; R Exelbert; C Nicastri; R C Nichols; F W Miller; P H Plotz; N Raben
Journal: Am J Hum Genet Date: 1995-04 Impact factor: 11.025

10. Myopathies due to enzyme deficiencies.

Authors: F Cornelio; S Di Donato
Journal: J Neurol Date: 1985 Impact factor: 4.849