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211 related items for PubMed ID: 2940012
21. The change in the pH 4 and pH 6 forms of alpha-glucosidase in cultured amniotic fluid cells and its implication in prenatal diagnosis of Pompe's disease. Fujimoto A, Fluharty AL. Clin Chim Acta; 1978 Dec 01; 90(2):157-61. PubMed ID: 31251 [Abstract] [Full Text] [Related]
22. Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease). Blom W, Luteyn JC, Kelholt-Dijkman HH, Huijmans JG, Loonen MC. Clin Chim Acta; 1983 Oct 31; 134(1-2):221-7. PubMed ID: 6418415 [No Abstract] [Full Text] [Related]
23. [EMG-findings in typ-II-glycogenosis (Pompe's disease, acid maltase deficiency) (author's transl)]. Gehlen W, Stefan H. EEG EMG Z Elektroenzephalogr Elektromyogr Verwandte Geb; 1978 Mar 31; 9(1):24-9. PubMed ID: 416945 [Abstract] [Full Text] [Related]
24. Very early presentation of Pompe's disease and its cross-sectional echocardiographic features. Lorber A, Luder AS. Int J Cardiol; 1987 Sep 31; 16(3):311-4. PubMed ID: 3308716 [Abstract] [Full Text] [Related]
25. [A retrospective study of six patients with late-onset Pompe disease]. Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P. Rev Neurol (Paris); 2008 Apr 31; 164(4):336-42. PubMed ID: 18439925 [Abstract] [Full Text] [Related]
27. [Enzyme replacement therapy in Pompe's disease]. Merk T, Wibmer T, Schumann C, Krüger S. Med Klin (Munich); 2007 Jul 15; 102(7):570-3. PubMed ID: 17634875 [Abstract] [Full Text] [Related]
28. Urinary alpha-glucosidase analysis for the detection of the adult form of Pompe's disease. Soyama K, Ono E, Shimada N, Tanaka K, Kusunoki T. Clin Chim Acta; 1977 May 16; 77(1):61-7. PubMed ID: 17490 [Abstract] [Full Text] [Related]
29. [Ichthyosiform scaling in alpha-1,4-glucosidase deficiency]. Gebhart W, Mainitz M, Jurecka W, Niebauer G, Paschke E, Stöckler S, Sluga E. Hautarzt; 1988 Apr 16; 39(4):228-32. PubMed ID: 3290163 [Abstract] [Full Text] [Related]
30. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT. Muscle Nerve; 2003 Jun 16; 27(6):743-51. PubMed ID: 12766987 [Abstract] [Full Text] [Related]
31. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Clin Chim Acta; 2004 Sep 16; 347(1-2):97-102. PubMed ID: 15313146 [Abstract] [Full Text] [Related]
33. Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. II. Deficiency of a basic protein in fibroblasts of patients with Pompe's disease. Pena SD, Quilliam NM, Hamerton JL, Wrogemann K. Pediatr Res; 1978 Sep 16; 12(9):894-8. PubMed ID: 362358 [Abstract] [Full Text] [Related]
34. Glycogen storage disease type II in Israel. Bashan N, Potashnik R, Barash V, Gutman A, Moses SW. Isr J Med Sci; 1988 Sep 16; 24(4-5):224-7. PubMed ID: 3132435 [Abstract] [Full Text] [Related]