Citations for
1GAA, 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
2GAA, GSD2
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Schoser B, Hill V, Raben N.
Neurotherapeutics 5(4):569-78. Review. 2008
3GAA, 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
4GSD2, 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
5GAA, 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
6GAA, 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
7GAA, 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
8GSD2, 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
9GAA, 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
10GAA
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
11GAA, 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
12GAA, 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
13GAA, 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
14GAA, 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
15GAA, 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
16GAA, 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
17GAA, 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
18GAA, 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
19BTK, 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
20GAA, 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
21GAA, 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
22GAA, 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
23GAA, 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
24GAA, 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
25GAA, 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
26GAA, 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
27GAA, 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
28GAA, 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
29GAA, 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
30GAA, 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
31GAA, 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
32GAA, 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
33GAA, 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
34GAA, 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
35GAA, 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
36GAA, GSD2
Alpha-glucosidase deficiency in generalized glycogen storage disease.
Hers HG.
Biochem J 86 : 11-16. 1963