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4. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. Chan MY; Jalil JA; Yakob Y; Wahab SAA; Ali EZ; Khalid MKNM; Leong HY; Chew HB; Sivabalakrishnan JB; Ngu LH Orphanet J Rare Dis; 2023 Aug; 18(1):231. PubMed ID: 37542277 [TBL] [Abstract][Full Text] [Related]
5. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy]. Luo JH; Qiu WJ; Fang D; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF Zhonghua Er Ke Za Zhi; 2017 Jun; 55(6):423-427. PubMed ID: 28592009 [No Abstract] [Full Text] [Related]
6. Gene Therapy for Pompe Disease: The Time is now. Colella P; Mingozzi F Hum Gene Ther; 2019 Oct; 30(10):1245-1262. PubMed ID: 31298581 [TBL] [Abstract][Full Text] [Related]
7. Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. Wang J; Zhou CJ; Khodabukus A; Tran S; Han SO; Carlson AL; Madden L; Kishnani PS; Koeberl DD; Bursac N Commun Biol; 2021 May; 4(1):524. PubMed ID: 33953320 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy. Muñoz S; Bertolin J; Jimenez V; Jaén ML; Garcia M; Pujol A; Vilà L; Sacristan V; Barbon E; Ronzitti G; El Andari J; Tulalamba W; Pham QH; Ruberte J; VandenDriessche T; Chuah MK; Grimm D; Mingozzi F; Bosch F Mol Metab; 2024 Mar; 81():101899. PubMed ID: 38346589 [TBL] [Abstract][Full Text] [Related]
10. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Herzog A; Hartung R; Reuser AJ; Hermanns P; Runz H; Karabul N; Gökce S; Pohlenz J; Kampmann C; Lampe C; Beck M; Mengel E Orphanet J Rare Dis; 2012 Jun; 7():35. PubMed ID: 22676651 [TBL] [Abstract][Full Text] [Related]
11. Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Raben N; Jatkar T; Lee A; Lu N; Dwivedi S; Nagaraju K; Plotz PH Mol Ther; 2002 Nov; 6(5):601-8. PubMed ID: 12409258 [TBL] [Abstract][Full Text] [Related]
12. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R Mol Genet Metab; 2023 May; 139(1):107565. PubMed ID: 37087815 [TBL] [Abstract][Full Text] [Related]
13. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. Cerón-Rodríguez M; Castillo-García D; Acosta-Rodríguez-Bueno CP; Aguirre-Hernández J; Murillo-Eliosa JR; Valencia-Mayoral P; Escobar-Sánchez A; Salgado-Loza JL Mol Genet Genomic Med; 2022 Jul; 10(7):e1957. PubMed ID: 35532199 [TBL] [Abstract][Full Text] [Related]
14. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. Douillard-Guilloux G; Raben N; Takikita S; Ferry A; Vignaud A; Guillet-Deniau I; Favier M; Thurberg BL; Roach PJ; Caillaud C; Richard E Hum Mol Genet; 2010 Feb; 19(4):684-96. PubMed ID: 19959526 [TBL] [Abstract][Full Text] [Related]
15. The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease. Li J; Cui Y; Wang X; Wang Q; Wang H; Yan B Int Heart J; 2020 Jan; 61(1):178-182. PubMed ID: 31875618 [TBL] [Abstract][Full Text] [Related]
16. Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. Schaaf GJ; van Gestel TJM; In 't Groen SLM; de Jong B; Boomaars B; Tarallo A; Cardone M; Parenti G; van der Ploeg AT; Pijnappel WWMP Acta Neuropathol Commun; 2018 Nov; 6(1):119. PubMed ID: 30404653 [TBL] [Abstract][Full Text] [Related]
17. Novel GAA mutations in patients with Pompe disease. Turaça LT; de Faria DO; Kyosen SO; Teixeira VD; Motta FL; Pessoa JG; Rodrigues E Silva M; de Almeida SS; D'Almeida V; Munoz Rojas MV; Martins AM; Pesquero JB Gene; 2015 Apr; 561(1):124-31. PubMed ID: 25681614 [TBL] [Abstract][Full Text] [Related]
18. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Fraites TJ; Schleissing MR; Shanely RA; Walter GA; Cloutier DA; Zolotukhin I; Pauly DF; Raben N; Plotz PH; Powers SK; Kessler PD; Byrne BJ Mol Ther; 2002 May; 5(5 Pt 1):571-8. PubMed ID: 11991748 [TBL] [Abstract][Full Text] [Related]
19. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease. Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108 [TBL] [Abstract][Full Text] [Related]
20. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ]. Huang YL; Sheng HY; Jia XF; Su XY; Zhao XY; Xie T; Tang CF; Liu SC; Li XZ; Zhang W; Mei HF; Zeng CH; Liu L Zhonghua Er Ke Za Zhi; 2021 Mar; 59(3):189-194. PubMed ID: 33657692 [No Abstract] [Full Text] [Related] [Next] [New Search]