BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

498 related articles for article (PubMed ID: 14972326)

  • 1. 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]  

  • 2. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM; Kroos MA; Smeitink JA; van der Ploeg AT; Kleijer WJ; Reuser AJ
    Hum Mutat; 1998; 11(3):209-15. PubMed ID: 9521422
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
    Castro-Gago M; Eirís-Puñal J; Rodríguez-Núñez A; Pintos-Martínez E; Benlloch-Marín T; Barros-Angueira F
    Rev Neurol; 1999 Jul 1-15; 29(1):46-9. PubMed ID: 10528311
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M; Puech JP; Letourneur F; Fardeau M; Kahn A; Poenaru L
    Biochem Biophys Res Commun; 1997 Jun; 235(1):138-41. PubMed ID: 9196050
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
    Martiniuk F; Chen A; Donnabella V; Arvanitopoulos E; Slonim AE; Raben N; Plotz P; Rom WN
    Biochem Biophys Res Commun; 2000 Oct; 276(3):917-23. PubMed ID: 11027569
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
    Pauly DF; Johns DC; Matelis LA; Lawrence JH; Byrne BJ; Kessler PD
    Gene Ther; 1998 Apr; 5(4):473-80. PubMed ID: 9614571
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
    Beratis NG; LaBadie GU; Hirschhorn K
    J Clin Invest; 1978 Dec; 62(6):1264-74. PubMed ID: 34626
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
    Reuser AJ; Kroos M; Willemsen R; Swallow D; Tager JM; Galjaard H
    J Clin Invest; 1987 Jun; 79(6):1689-99. PubMed ID: 3108320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM; Pongratz DE; Podskarbi T; Shin YS; Schoser BG
    Neurology; 2005 Jan; 64(2):368-70. PubMed ID: 15668445
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
    Okumiya T; Kroos MA; Vliet LV; Takeuchi H; Van der Ploeg AT; Reuser AJ
    Mol Genet Metab; 2007 Jan; 90(1):49-57. PubMed ID: 17095274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
    Zhang S; Bagshaw R; Hilson W; Oho Y; Hinek A; Clarke JT; Callahan JW
    Biochem J; 2000 Jun; 348 Pt 3(Pt 3):621-32. PubMed ID: 10839995
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
    Raben N; Fukuda T; Gilbert AL; de Jong D; Thurberg BL; Mattaliano RJ; Meikle P; Hopwood JJ; Nagashima K; Nagaraju K; Plotz PH
    Mol Ther; 2005 Jan; 11(1):48-56. PubMed ID: 15585405
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K; Hopwood JJ; Meikle PJ
    Clin Chim Acta; 2005 Nov; 361(1-2):191-8. PubMed ID: 15993875
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
    Lin CY; Shieh JJ
    Biochem Biophys Res Commun; 1995 Mar; 208(2):886-93. PubMed ID: 7695647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.