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.
29. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. Yoshida T; Awaya T; Jonouchi T; Kimura R; Kimura S; Era T; Heike T; Sakurai H Sci Rep; 2017 Oct; 7(1):13473. PubMed ID: 29044175 [TBL] [Abstract][Full Text] [Related]
30. Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease. Gal A; Grosz Z; Borsos B; Szatmari I; Sebők A; Jávor L; Harmath V; Szakszon K; Dezsi L; Balku E; Jobbagy Z; Herczegfalvi A; Almássy Z; Kerényi L; Molnar MJ Life (Basel); 2021 May; 11(6):. PubMed ID: 34072668 [TBL] [Abstract][Full Text] [Related]
31. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study. Confalonieri M; Vitacca M; Scala R; Polverino M; Sabato E; Crescimanno G; Ceriana P; Antonaglia C; Siciliano G; Ring N; Zacchigna S; Salton F; Vianello A; Orphanet J Rare Dis; 2019 Mar; 14(1):62. PubMed ID: 30832705 [TBL] [Abstract][Full Text] [Related]
32. Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease. Liu HX; Pu CQ; Shi Q; Zhang YT; Ban R Chin Med J (Engl); 2018 Feb; 131(4):448-453. PubMed ID: 29451150 [TBL] [Abstract][Full Text] [Related]
33. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease. Sun B; Li S; Bird A; Yi H; Kemper A; Thurberg BL; Koeberl DD J Gene Med; 2010 Nov; 12(11):881-91. PubMed ID: 20967919 [TBL] [Abstract][Full Text] [Related]
34. A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells. Yoshida T; Jonouchi T; Osafune K; Takita J; Sakurai H Front Cell Dev Biol; 2019; 7():316. PubMed ID: 31850350 [TBL] [Abstract][Full Text] [Related]
35. Novel Mutation in the Feline Rakib TM; Islam MS; Tanaka S; Yabuki A; Pervin S; Maki S; Faruq AA; Tacharina MR; Yamato O Animals (Basel); 2023 Apr; 13(8):. PubMed ID: 37106898 [TBL] [Abstract][Full Text] [Related]
36. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA. Xu F; Ding E; Migone F; Serra D; Schneider A; Chen YT; Amalfitano A J Gene Med; 2005 Feb; 7(2):171-8. PubMed ID: 15515143 [TBL] [Abstract][Full Text] [Related]
37. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Patel TT; Banugaria SG; Case LE; Wenninger S; Schoser B; Kishnani PS Mol Genet Metab; 2012 Jul; 106(3):301-9. PubMed ID: 22613277 [TBL] [Abstract][Full Text] [Related]
38. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease. Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324 [TBL] [Abstract][Full Text] [Related]
39. Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease. Keeler AM; Zieger M; Todeasa SH; McCall AL; Gifford JC; Birsak S; Choudhury SR; Byrne BJ; Sena-Esteves M; ElMallah MK Hum Gene Ther; 2019 Jan; 30(1):57-68. PubMed ID: 29901418 [TBL] [Abstract][Full Text] [Related]
40. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. Mori M; Bailey LA; Estrada J; Rehder CW; Li JS; Rogers JG; Bali DS; Buckley AF; Kishnani PS JIMD Rep; 2017; 31():79-83. PubMed ID: 27142047 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]