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.
46. 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]
47. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease. Douillard-Guilloux G; Richard E; Batista L; Caillaud C J Gene Med; 2009 Apr; 11(4):279-87. PubMed ID: 19263466 [TBL] [Abstract][Full Text] [Related]
48. [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. Zeng MH; Qiu WJ; Gu XF; Wang Y; Zhou JD; Ye J; Han LS; Zhang HW Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):261-5. PubMed ID: 21644219 [TBL] [Abstract][Full Text] [Related]
49. Imino sugars are potent agonists of the human glucose sensor SGLT3. Voss AA; Díez-Sampedro A; Hirayama BA; Loo DD; Wright EM Mol Pharmacol; 2007 Feb; 71(2):628-34. PubMed ID: 17110502 [TBL] [Abstract][Full Text] [Related]
50. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. Maimaiti M; Takahashi S; Okajima K; Suzuki N; Ohinata J; Araki A; Tanaka H; Mukai T; Fujieda K J Hum Genet; 2009 Aug; 54(8):493-6. PubMed ID: 19609281 [TBL] [Abstract][Full Text] [Related]
51. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. Montalvo AL; Cariati R; Deganuto M; Guerci V; Garcia R; Ciana G; Bembi B; Pittis MG Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326 [TBL] [Abstract][Full Text] [Related]
52. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Sun B; Zhang H; Franco LM; Brown T; Bird A; Schneider A; Koeberl DD Mol Ther; 2005 Jun; 11(6):889-98. PubMed ID: 15922959 [TBL] [Abstract][Full Text] [Related]
53. A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. Kroos MA; Kirschner J; Gellerich FN; Hermans MM; Van Der Ploeg AT; Reuser AJ; Korinthenberg R Neuromuscul Disord; 2004 Jun; 14(6):371-4. PubMed ID: 15145338 [TBL] [Abstract][Full Text] [Related]
54. Novel imino sugar α-glucosidase inhibitors as antiviral compounds. Howe JD; Smith N; Lee MJ; Ardes-Guisot N; Vauzeilles B; Désiré J; Baron A; Blériot Y; Sollogoub M; Alonzi DS; Butters TD Bioorg Med Chem; 2013 Aug; 21(16):4831-8. PubMed ID: 23582447 [TBL] [Abstract][Full Text] [Related]
55. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hermans MM; Kroos MA; de Graaff E; Oostra BA; Reuser AJ Hum Mutat; 1993; 2(4):268-73. PubMed ID: 8401535 [TBL] [Abstract][Full Text] [Related]
56. Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency. Lin CY; Ho CH; Hsieh YH; Kikuchi T Gene Ther; 2002 May; 9(9):554-63. PubMed ID: 11973631 [TBL] [Abstract][Full Text] [Related]
57. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hermans MM; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJ Hum Mutat; 2004 Jan; 23(1):47-56. PubMed ID: 14695532 [TBL] [Abstract][Full Text] [Related]
58. Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model. Xu F; Ding E; Liao SX; Migone F; Dai J; Schneider A; Serra D; Chen YT; Amalfitano A Gene Ther; 2004 Nov; 11(21):1590-8. PubMed ID: 15356673 [TBL] [Abstract][Full Text] [Related]
59. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890 [TBL] [Abstract][Full Text] [Related]
60. Synthesis of N-substituted ε-hexonolactams as pharmacological chaperones for the treatment of N370S mutant Gaucher disease. Wang GN; Twigg G; Butters TD; Zhang S; Zhang L; Zhang LH; Ye XS Org Biomol Chem; 2012 Apr; 10(15):2923-7. PubMed ID: 22286559 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]