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Demonstration of acid α-glucosidase in different types of Pompe disease by use of an immunochemical methodNINOMIYA, N; MARSUDA, I; MATSUOKA, T et al.Journal of the neurological sciences. 1984, Vol 66, Num 2-3, pp 129-139, issn 0022-510XArticle

Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patientsREUSER, A. J. J; KROOS, M. A; PONNE, N. J et al.Experimental cell research. 1984, Vol 155, Num 1, pp 178-189, issn 0014-4827Article

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Enhanced enzyme activity after incubation with zinc can be used to distinguish heterozygotes of Pompe's diseaseCHING-YUANG LIN.Pediatric research. 1988, Vol 23, Num 3, pp 283-287, issn 0031-3998Article

Parental genetic contribution to mode of presentation in Pompe diseaseCOTTRILL, C. M; JOHNSON, G. L; NOONAN, J. A et al.Pediatrics (Evanston). 1987, Vol 79, Num 3, pp 379-381, issn 0031-4005Article

Clinical observations on seven patients with infantile Pompe's diseaseMING-REN CHEN; SHUAN-PEI LIN; TSENG-CHEN SUNG et al.Xiaoér keyi xuéhuì zázhì. 1987, Vol 28, Num 6, pp 464-469, issn 0001-6578Article

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Ichthyosiforme Schuppung bei α-1,4 Glukosidase-Mangel = Desquamation ichthyosiforme dans le déficit en α-1,4 glucosidase = Ichthyosis in α-1,4 glucosidase deficiencyGEBHART, W; MAINITZ, M; JURECKA, W et al.Hautarzt. 1988, Vol 39, Num 4, pp 228-232, issn 0017-8470Article

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Infantile acid maltase deficiency. III: Ultrastructure of metachromatic material and glycogen in muscle fibersGRIFFIN, J. L.Virchows Archiv. B, Cell pathology. 1984, Vol 45, Num 1, pp 51-61, issn 0340-6075Article

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Lysosomal Storage Disease 2 Pompe's diseaseVAN DER PLOEG, Ans T; REUSER, Amold J. J.Lancet (British edition). 2008, Vol 372, Num 9646, pp 1342-1353, issn 0140-6736, 12 p.Article

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Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cellsHUG, G; SOUKUP, S; RYAN, M et al.The New England journal of medicine. 1984, Vol 310, Num 16, pp 1018-1022, issn 0028-4793Article

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