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Journal Abstract Search

175 related items for PubMed ID: 7881422

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  • 3. 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
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  • 5. 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
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  • 6. 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 Jan; 2(4):268-73. PubMed ID: 8401535
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  • 7. 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
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  • 8. 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 09; 235(1):138-41. PubMed ID: 9196050
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  • 9. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 09; 53(5):379-82. PubMed ID: 9660056
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  • 10. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
    Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.
    Biochem Biophys Res Commun; 1998 Mar 27; 244(3):921-7. PubMed ID: 9535769
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  • 11. The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
    Beesley CE, Child AH, Yacoub MH.
    Hum Mutat; 1998 Mar 27; 11(5):413. PubMed ID: 10206684
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  • 12. 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 01; 537(1):41-5. PubMed ID: 24384324
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  • 13. The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ.
    Biochem J; 1993 Feb 01; 289 ( Pt 3)(Pt 3):687-93. PubMed ID: 8094613
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  • 14. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov 01; 10(9):681-7. PubMed ID: 1684505
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  • 15. 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 17; 208(2):886-93. PubMed ID: 7695647
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  • 16. Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
    Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT.
    Pediatr Res; 1995 Jul 17; 38(1):103-6. PubMed ID: 7478785
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  • 17. Glycogenosis type II (acid maltase deficiency).
    Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT.
    Muscle Nerve Suppl; 1995 Jul 17; 3():S61-9. PubMed ID: 7603530
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  • 18. Helios gene gun particle delivery for therapy of acid maltase deficiency.
    Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P, Rom WN.
    DNA Cell Biol; 2002 Oct 17; 21(10):717-25. PubMed ID: 12443541
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  • 19. Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
    Tsunoda H, Ohshima T, Tohyama J, Sasaki M, Sakuragawa N, Martiniuk F.
    Hum Genet; 1996 Apr 17; 97(4):496-9. PubMed ID: 8834250
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  • 20. [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
    Qiu JJ, Wei M, Zhang WM, Shi HP.
    Zhonghua Er Ke Za Zhi; 2007 Oct 17; 45(10):760-4. PubMed ID: 18211760
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