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3. [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; 164(4):336-42. PubMed ID: 18439925 [TBL] [Abstract][Full Text] [Related]
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5. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease]. Merkli H; Pál E; Nagy F; Horváth R; Várdi VK; Komoly S; Illés Z Orv Hetil; 2006 Jul; 147(30):1421-4. PubMed ID: 16977780 [TBL] [Abstract][Full Text] [Related]
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7. The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics. Temple JK; Dunn DW; Blitzer MG; Shapira E Am J Med Genet; 1985 Jul; 21(3):597-604. PubMed ID: 3895931 [TBL] [Abstract][Full Text] [Related]
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10. Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology. Tsuburaya RS; Monma K; Oya Y; Nakayama T; Fukuda T; Sugie H; Hayashi YK; Nonaka I; Nishino I Neuromuscul Disord; 2012 May; 22(5):389-93. PubMed ID: 22196155 [TBL] [Abstract][Full Text] [Related]
11. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. Verloes A; Massin M; Lombet J; Grattagliano B; Soyeur D; Rigo J; Koulischer L; Van Hoof F Am J Med Genet; 1997 Oct; 72(2):135-42. PubMed ID: 9382133 [TBL] [Abstract][Full Text] [Related]
12. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Anneser JM; Pongratz DE; Podskarbi T; Shin YS; Schoser BG Neurology; 2005 Jan; 64(2):368-70. PubMed ID: 15668445 [TBL] [Abstract][Full Text] [Related]
13. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Raben N; Fukuda T; Gilbert AL; de Jong D; Thurberg BL; Mattaliano RJ; Meikle P; Hopwood JJ; Nagashima K; Nagaraju K; Plotz PH Mol Ther; 2005 Jan; 11(1):48-56. PubMed ID: 15585405 [TBL] [Abstract][Full Text] [Related]
14. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Kroos M; Pomponio RJ; van Vliet L; Palmer RE; Phipps M; Van der Helm R; Halley D; Reuser A; Hum Mutat; 2008 Jun; 29(6):E13-26. PubMed ID: 18425781 [TBL] [Abstract][Full Text] [Related]
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18. [Changes in glycogen metabolism in hereditary muscular diseases (review)]. Rozenfel'd EL Vopr Med Khim; 1986; 32(4):12-20. PubMed ID: 2945316 [TBL] [Abstract][Full Text] [Related]
19. Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Papadimas GK; Spengos K; Konstantinopoulou A; Vassilopoulou S; Vontzalidis A; Papadopoulos C; Michelakakis H; Manta P Clin Neurol Neurosurg; 2011 May; 113(4):303-7. PubMed ID: 21216089 [TBL] [Abstract][Full Text] [Related]