| 1 | GSD2
|
| Pompe disease gene therapy.
|
| Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, Elmallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS.
|
| Hum Mol Genet 20(R1):R61-8. Epub 2011 Apr 25. Review.
2011
|
| 2 | GAA, GSD2
|
| 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 54(8):493-6. Epub 2009 Jul 17.
2009
|
| 3 | GAA, GSD2
|
| Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
|
| Schoser B, Hill V, Raben N.
|
| Neurotherapeutics 5(4):569-78. Review. 2008
|
| 4 | GAA, GSD2
|
| Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
|
| Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.
|
| J Neurol 255(6):831-8. Epub 2008 May 6.
2008
|
| 5 | GSD2, GAA
|
| Structural and biochemical studies on Pompe disease and a pseudodeficiency of acid alpha-glucosidase.
|
| Tajima Y, Matsuzawa F, Aikawa S, Okumiya T, Yoshimizu M, Tsukimura T, Ikekita M, Tsujino S, Tsuji A, Edmunds T, Sakuraba H.
|
| J Hum Genet 52(11):898-906. Epub 2007 Sep 6. 2007
|
| 6 | GAA, GSD2
|
| Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
|
| Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B.
|
| Neuromuscul Disord 17(9-10):698-706. Epub 2007 Jul 23. 2007
|
| 7 | GAA, GSD2
|
| Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
|
| Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
|
| Hum Mutat 27(10):999-1006. 2006
|
| 8 | GAA, GSD2
|
| Disease severity in children and adults with Pompe disease related to age and disease duration.
|
| Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT.
|
| Neurology 64(12):2139-41. 2005
|
| 9 | GSD2, GAA
|
| 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 81(3):203-8. 2004
|
| 10 | GAA, GSD2
|
| Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
|
| Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R.
|
| Am J Hum Genet 70(4):1054-7. 2002
|
| 11 | GAA, GSD2
|
| A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
|
| Huie ML, et al.
|
| Hum Genet 104 : 94-98. 1999
|
| 12 | GAA, GSD2
|
| 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, et al.
|
| Biochem Biophys Res Commun 244 : 921-927. 1998
|
| 13 | GAA, GSD2
|
| Glycogen storage disease type II : identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
|
| Kroos MA, et al.
|
| Clin Genet 53 : 379-382. 1998
|
| 14 | GAA, GSD2
|
| Two extremes of the clinical spectrum of glycogen storage disease type II in one family : a matter of genotype.
|
| Kroos MA, et al.
|
| Hum Mutat 9 : 17-22. 1997
|
| 15 | GAA, GSD2
|
| 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 235(1):138-41. 1997
|
| 16 | GAA, GSD2
|
| Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
|
| Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N.
|
| Hum Mutat 10(2):128-34. 1997
|
| 17 | GSD2, TK1
|
| Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.
|
| Kuo WL, et al.
|
| Hum Genet 97 : 404-406. 1996
|
| 18 | GAA, GSD2
|
| Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
|
| Shieh JJ, et al.
|
| Biochem Biophys Res Commun 219 : 322-326. 1996
|
| 19 | GAA, GSD2
|
| Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
|
| Ausems MGEM, et al.
|
| Clin Genet 49 : 325-328. 1996
|
| 20 | GSD2
|
| Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
|
| Huie ML, et al.
|
| Ann Hum Genet 60 : 365-368. 1996
|
| 21 | BTK, GAA, GSD2
|
| Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.
|
| Oeltjen JC, et al.
|
| Mamm Genome 6 : 334-338. 1995
|
| 22 | GAA, GSD2
|
| Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
|
| Boerkoel CF, et al.
|
| Am J Hum Genet 56 : 887-897. 1995
|
| 23 | GAA, GSD2
|
| Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
| Lin CY, et al.
|
| Biochem Biophys Res Commun 208 : 886-893. 1995
|
| 24 | GAA, GSD2
|
| A De novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
|
| Huie ML, et al.
|
| Hum Mol Genet 3 : 1081-1087. 1994
|
| 25 | GAA, GSD2
|
| Molecular identification of a very common and an uncommon splice site mutation in adult onset glycogen storage disease type II (GSDII). (abstr)
|
| Huie ML, et al.
|
| Am J Hum Genet 55 : A224. 1994
|
| 26 | GAA, GSD2
|
| Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
|
| Huie ML, et al.
|
| Hum Mutat 4 : 291-293. 1994
|
| 27 | GAA, GSD2
|
| Aberrant splicing in adult onset glycogen storage disease type II (GSDII) : molecular identification of an IVS1 (- 13T -G) mutation in a majority of patients and a novel IVS10 (+ 1GT - CT) mutation.
|
| Huie ML, et al.
|
| Hum Mol Genet 3 : 2231-2236. 1994
|
| 28 | GAA, GSD2
|
| The effect of a single base pair deletion (deltaT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
|
| Hermans MMP, et al.
|
| Hum Mol Genet 3 : 2213-2218. 1994
|
| 29 | GAA, GSD2
|
| Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
|
| Van der Kraan M, et al.
|
| Biochem Biophys Res Commun 203 : 1535-1541. 1994
|
| 30 | GSD2
|
| The loss of a polymorphic glycosylation site caused by Thr-927-Ile is linked to a second polymorphic Val-816-Ile substitution in lysosomal alpha-glucosidase of American Blacks.
|
| Hermans MMP, et al.
|
| Genomics 16 : 300-301. 1993
|
| 31 | GAA, GSD2
|
| Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
|
| Hermans MMP, et al.
|
| Hum Mutat 2 : 268-273. 1993
|
| 32 | GAA, GSD2
|
| The conservative substitution Asp-645--Glu in lysosomal alpha-glucosidase alffects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
|
| Hermans MM, et al.
|
| Biochem J 289 : 687-693. 1993
|
| 33 | GAA, GSD2
|
| Identification of a deletion common to adult and infantile onset acid alpha glucosidase deficiency.
|
| Boerkoel C, et al.
|
| Am J Hum Genet 51 : A347. 1992
|
| 34 | GAA, GSD2
|
| Identification of a missense mutation in one allele of a patient with pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from second allele.
|
| Zhong N, et al.
|
| Am J Hum Genet 49 : 635-645. 1991
|
| 35 | GAA, GSD2
|
| Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
|
| Hermans MMP, et al.
|
| Biochem Biophys Res Commun 179 : 919-926. 1991
|
| 36 | GAA, GSD2
|
| Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
|
| Martiniuk F, et al.
|
| DNA Cell Biol 10 : 681-687. 1991
|
| 37 | GSD2
|
| An Xbal restriction site polymorphism in the acid alpha-glucosidase gene (GAA).
|
| Hoefsloot LH, et al.
|
| Nucleic Acids Res 19 : 682. 1991
|
| 38 | GSD2
|
| Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locus.
|
| Tzall S, et al.
|
| Nucleic Acids Res 19 : 1727. 1991
|
| 39 | GSD2
|
| Further characterization of the Pstl RFLPs at the acid alpha glucosidase (GAA) locus.
|
| Tzall S, et al.
|
| Nucleic Acids Res 19 : 1727. 1991
|
| 40 | GSD2
|
| Further characterization of Sacl RFLPs at the acid alpha glucosidase (GAA) locus.
|
| Tzall S, et al.
|
| Nucleic Acids Res 18 : 1930. 1990
|
| 41 | GAA, GSD2
|
| Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
|
| Martiniuk F, et al.
|
| Am J Hum Genet 47 : 73-78. 1990
|
| 42 | GSD2
|
| HindIII/EcoRI polymorphism in the GAA gene.
|
| Hoefsloot LH, et al.
|
| Nucleic Acids Res 18 : 5921. 1990
|
| 43 | GSD2
|
| Identification of an Rsal RFLP at the acid alpha glucosidase (GAA) locus.
|
| Tzall S, et al.
|
| Nucleic Acids Res 18 : 1661. 1990
|
| 44 | GSD2, MAN2B1, PEPD
|
| Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and î-mannosidase (MANB) by somatic cell hybridization.
|
| Martiniuk F, et al.
|
| Hum Genet 69 : 109-111. 1985
|
| 45 | GSD2
|
| Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization.
|
| Honig J, Martiniuk F, D'Eustachio P, Zamfirescu C, Desnick R, Hirschhorn K, Hirschhorn LR, Hirschhorn R.
|
| Ann Hum Genet 48 : 49-56. 1984
|
| 46 | GSD2
|
| Cloning a cDNA for the lysosomal alpha-glucosidase.
|
| Konings A, Hupkes P, Versteeg R, Grosveld G, Reuser A, Galjaard H.
|
| Biochem Biophys Res Commun 119 : 252-258. 1984
|
| 47 | GSD2
|
| Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.
|
| Halley DJJ, et al.
|
| Hum Genet 67 : 326-328. 1984
|
| 48 | GSD2
|
| Elucidation of an unbalanced chromosome translocation by gene dosage studies.
|
| Sandison A, et al.
|
| Clin Genet 22 : 30-36. 1982
|
| 49 | GAA, GSD2
|
| Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.
|
| D'Ancona GG, et al.
|
| Cytogenet Cell Genet 25 : 144-145. 1979
|
| 50 | GSD2
|
| Assignment of the human alpha-glucosidase gene (alphaGLU) to chromosome 17 using somatic cell hybrids.
|
| Solomon E, et al.
|
| Ann Hum Genet 42 : 273-281. 1979
|
| 51 | GSD2, GLA, HEXB, MDH1, IDH1, PGK1
|
| Regional mapping of enzyme loci on human chromosomes 2,17,5 and X by use of somatic cell hybridization.
|
| Weil D, et al.
|
| Cytogenet Cell Genet 25 : 215-216. 1979
|
| 52 | GAA, GSD2
|
| Alpha-glucosidase deficiency in generalized glycogen storage disease.
|
| Hers HG.
|
| Biochem J 86 : 11-16. 1963
|