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Journal Abstract Search
163 related items for PubMed ID: 416945
41. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. Isaacs H, Savage N, Badenhorst M, Whistler T. J Neurol Neurosurg Psychiatry; 1986 Sep; 49(9):1011-8. PubMed ID: 3093639 [Abstract] [Full Text] [Related]
47. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)]. Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F. Rev Neurol; 1985 Oct; 29(1):46-9. PubMed ID: 10528311 [Abstract] [Full Text] [Related]
49. [Pompe's disease. Part I: pathogenesis and clinical features]. Illés Z, Trauninger A. Ideggyogy Sz; 2009 Jul 30; 62(7-8):231-43. PubMed ID: 19685701 [Abstract] [Full Text] [Related]
50. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Ann Neurol; 2004 Apr 30; 55(4):495-502. PubMed ID: 15048888 [Abstract] [Full Text] [Related]
52. [Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)]. Fischer P, Eich W, Haass M, Herzog W. Dtsch Med Wochenschr; 1999 Aug 06; 124(31-32):925-9. PubMed ID: 10480012 [Abstract] [Full Text] [Related]
55. Very early presentation of Pompe's disease and its cross-sectional echocardiographic features. Lorber A, Luder AS. Int J Cardiol; 1987 Sep 06; 16(3):311-4. PubMed ID: 3308716 [Abstract] [Full Text] [Related]
58. A micro-radiochemical assay for alpha-1,4-glucosidase and its use in the assessment of type II glycogenosis (Pompe's disease). Nelson PV, Carey WF, Pollard AC. Clin Chim Acta; 1977 Jun 15; 77(3):337-42. PubMed ID: 17494 [Abstract] [Full Text] [Related]