These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. Katzin LW; Amato AA J Clin Neuromuscul Dis; 2008 Jun; 9(4):421-31. PubMed ID: 18525427 [TBL] [Abstract][Full Text] [Related]
3. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Chien YH; Chiang SC; Zhang XK; Keutzer J; Lee NC; Huang AC; Chen CA; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449 [TBL] [Abstract][Full Text] [Related]
4. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Kallwass H; Carr C; Gerrein J; Titlow M; Pomponio R; Bali D; Dai J; Kishnani P; Skrinar A; Corzo D; Keutzer J Mol Genet Metab; 2007 Apr; 90(4):449-52. PubMed ID: 17270480 [TBL] [Abstract][Full Text] [Related]
5. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Chien YH; Lee NC; Thurberg BL; Chiang SC; Zhang XK; Keutzer J; Huang AC; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL Pediatrics; 2009 Dec; 124(6):e1116-25. PubMed ID: 19948615 [TBL] [Abstract][Full Text] [Related]
6. [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]
7. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. American Association of Neuromuscular & Electrodiagnostic Medicine Muscle Nerve; 2009 Jul; 40(1):149-60. PubMed ID: 19533647 [TBL] [Abstract][Full Text] [Related]
8. Approach to gene therapy of glycogenosis type II (Pompe disease). Poenaru L Mol Genet Metab; 2000 Jul; 70(3):163-9. PubMed ID: 10924270 [TBL] [Abstract][Full Text] [Related]
10. Newborn screening for Pompe disease: an update, 2011. Burton BK Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):8-12. PubMed ID: 22253219 [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. Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease. Ishigaki K; Murakami T; Nakanishi T; Oda E; Sato T; Osawa M Brain Dev; 2012 Feb; 34(2):98-102. PubMed ID: 21676566 [TBL] [Abstract][Full Text] [Related]
13. Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. Rossi M; Parenti G; Della Casa R; Romano A; Mansi G; Agovino T; Rosapepe F; Vosa C; Del Giudice E; Andria G J Child Neurol; 2007 May; 22(5):565-73. PubMed ID: 17690063 [TBL] [Abstract][Full Text] [Related]
17. [Diagnosis and treatment of Pompe disease]. Bravo-Oro A; de la Fuente-Cortez B; Molina-García A; Romero-Díaz V; Rodríguez-Leyva I; Esmer-Sánchez Mdel C; Rev Med Inst Mex Seguro Soc; 2013; 51(5):536-51. PubMed ID: 24144148 [TBL] [Abstract][Full Text] [Related]
18. Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy. Cho A; Kim SJ; Lim BC; Hwang H; Park JD; Kim GB; Jin DK; Lee J; Ki CS; Kim KJ; Hwang YS; Chae JH J Child Neurol; 2012 Mar; 27(3):319-24. PubMed ID: 21940687 [TBL] [Abstract][Full Text] [Related]
19. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Echaniz-Laguna A; Carlier RY; Laloui K; Carlier P; Salort-Campana E; Pouget J; Laforet P Muscle Nerve; 2015 Jun; 51(6):884-9. PubMed ID: 25786784 [TBL] [Abstract][Full Text] [Related]
20. Challenges in diagnosis and treatment of late-onset Pompe disease. Desnuelle C; Salviati L Curr Opin Neurol; 2011 Oct; 24(5):443-8. PubMed ID: 21892081 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]