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16 in total

1. 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

2. Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

Authors: F Martiniuk; M Mehler; S Tzall; G Meredith; R Hirschhorn
Journal: Am J Hum Genet Date: 1990-07 Impact factor: 11.025

3. 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

4. Alpha-1,4-glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease).

Authors: D Seiler; R Kelleter; H W Kölmel; R Heene
Journal: Experientia Date: 1973-08-15

5. [Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl)].

Authors: H W Kölmel; H Assmus; D Seiler
Journal: Arch Psychiatr Nervenkr (1970) Date: 1974

Review 6. The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors: Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal: J Neurol Date: 2005-08 Impact factor: 4.849

7. The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult.

Authors: G K Schlenska; R Heene; G Spalke; D Seiler
Journal: J Neurol Date: 1976-06-14 Impact factor: 4.849

Review 8. The glycogen storage diseases.

Authors: B E Ryman
Journal: J Clin Pathol Suppl (R Coll Pathol) Date: 1974

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. Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.

Authors: T C Iancu; A Lerner; H Shiloh; N Bashan; S Moses
Journal: Eur J Pediatr Date: 1988-05 Impact factor: 3.183