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15 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. [Tests with human volunteers on parenteral utilization of maltose].

Authors: H Förster; I Hoos; S Boecker
Journal: Z Ernahrungswiss Date: 1976-09

4. 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

5. Hair root analysis in X-linked ichthyosis.

Authors: J Dancis; V Jansen; J Hutzler
Journal: J Inherit Metab Dis Date: 1983 Impact factor: 4.982

6. 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

7. Insulin-independent glycogen supercompensation in isolated mouse skeletal muscle: role of phosphorylase inactivation.

Authors: Marie E Sandström; Fabio Abbate; Daniel C Andersson; Shi-Jin Zhang; Håkan Westerblad; Abram Katz
Journal: Pflugers Arch Date: 2004-04-14 Impact factor: 3.657

8. The suitability of maltose for parenteral nutrion.

Authors: H Förster; I Hoos
Journal: Eur J Intensive Care Med Date: 1975-11

9. Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Authors: F Martiniuk; M Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; R Hirschhorn
Journal: Proc Natl Acad Sci U S A Date: 1986-12 Impact factor: 11.205

10. Dysfunctional glycogen storage in a mouse model of alpha1-antitrypsin deficiency.

Authors: Ralf H Hubner; Philip L Leopold; Maija Kiuru; Bishnu P De; Anja Krause; Ronald G Crystal
Journal: Am J Respir Cell Mol Biol Date: 2008-08-07 Impact factor: 6.914