| 1 | 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
|
| 2 | 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
|
| 3 | 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
|
| 4 | 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
|
| 5 | 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
|
| 6 | 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
|
| 7 | 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
|
| 8 | 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
|
| 9 | 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
|
| 10 | GAA
|
| Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.
|
| Yan B, Raben N, Lu N, Plotz PH.
|
| Hum Genet 109(2):186-90. 2001
|
| 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 | 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
|
| 18 | 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
|
| 19 | 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
|
| 20 | 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
|
| 21 | 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
|
| 22 | 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
|
| 23 | 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
|
| 24 | 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
|
| 25 | 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
|
| 26 | 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
|
| 27 | 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
|
| 28 | 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
|
| 29 | 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
|
| 30 | 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
|
| 31 | 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
|
| 32 | 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
|
| 33 | 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
|
| 34 | 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
|
| 35 | 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
|
| 36 | GAA, GSD2
|
| Alpha-glucosidase deficiency in generalized glycogen storage disease.
|
| Hers HG.
|
| Biochem J 86 : 11-16. 1963
|