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5. A Comprehensive Update on Late-Onset Pompe Disease. Labella B; Cotti Piccinelli S; Risi B; Caria F; Damioli S; Bertella E; Poli L; Padovani A; Filosto M Biomolecules; 2023 Aug; 13(9):. PubMed ID: 37759679 [TBL] [Abstract][Full Text] [Related]
6. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. ; Al Jasmi F; Al Jumah M; Alqarni F; Al-Sanna'a N; Al-Sharif F; Bohlega S; Cupler EJ; Fathalla W; Hamdan MA; Makhseed N; Nafissi S; Nilipour Y; Selim L; Shembesh N; Sunbul R; Tonekaboni SH BMC Neurol; 2015 Oct; 15():205. PubMed ID: 26471939 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. Pascual SI Adv Exp Med Biol; 2009; 652():39-46. PubMed ID: 20225018 [TBL] [Abstract][Full Text] [Related]
12. Pompe disease: early diagnosis and early treatment make a difference. Chien YH; Hwu WL; Lee NC Pediatr Neonatol; 2013 Aug; 54(4):219-27. PubMed ID: 23632029 [TBL] [Abstract][Full Text] [Related]
13. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. Rairikar MV; Case LE; Bailey LA; Kazi ZB; Desai AK; Berrier KL; Coats J; Gandy R; Quinones R; Kishnani PS Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071 [TBL] [Abstract][Full Text] [Related]
14. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease]. Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935 [TBL] [Abstract][Full Text] [Related]
15. [Research advances in the diagnosis and treatment of Pompe disease]. Zhang XT; Ren WD Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):588-593. PubMed ID: 30022764 [TBL] [Abstract][Full Text] [Related]
16. [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]
17. Pompe disease: design, methodology, and early findings from the Pompe Registry. Byrne BJ; Kishnani PS; Case LE; Merlini L; Müller-Felber W; Prasad S; van der Ploeg A Mol Genet Metab; 2011 May; 103(1):1-11. PubMed ID: 21439876 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mori M; Haskell G; Kazi Z; Zhu X; DeArmey SM; Goldstein JL; Bali D; Rehder C; Cirulli ET; Kishnani PS Mol Genet Metab; 2017 Dec; 122(4):189-197. PubMed ID: 29122469 [TBL] [Abstract][Full Text] [Related]
20. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Kishnani PS; Amartino HM; Lindberg C; Miller TM; Wilson A; Keutzer J Mol Genet Metab; 2014; 113(1-2):84-91. PubMed ID: 25085280 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]