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Index > Protein center > GAA(Gene name) > Human
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  • GAA (Gene name),
  • Lysosomal alpha-glucosidase (Protein name ),  LYAG_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    GAA;
    Protein name:
    Lysosomal alpha-glucosidase;
    Alternative:
    Acid maltase;Aglucosidase alfa;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Essential for the degradation of glygogen to glucose in lysosomes.
    Subcellular Location:
    Lysosome Lysosome membrane
    Protein Attributes:
    Sequence length:
    952
    Sequence:
    50:
    MGVRHPPCSH | RLLAVCALVS | LATAALLGHI | LLHDFLLVPR | ELSGSSPVLE | 
    100:
    ETHPAHQQGA | SRPGPRDAQA | HPGRPRAVPT | QCDVPPNSRF | DCAPDKAITQ | 
    150:
    EQCEARGCCY | IPAKQGLQGA | QMGQPWCFFP | PSYPSYKLEN | LSSSEMGYTA | 
    200:
    TLTRTTPTFF | PKDILTLRLD | VMMETENRLH | FTIKDPANRR | YEVPLETPHV | 
    250:
    HSRAPSPLYS | VEFSEEPFGV | IVRRQLDGRV | LLNTTVAPLF | FADQFLQLST | 
    300:
    SLPSQYITGL | AEHLSPLMLS | TSWTRITLWN | RDLAPTPGAN | LYGSHPFYLA | 
    350:
    LEDGGSAHGV | FLLNSNAMDV | VLQPSPALSW | RSTGGILDVY | IFLGPEPKSV | 
    400:
    VQQYLDVVGY | PFMPPYWGLG | FHLCRWGYSS | TAITRQVVEN | MTRAHFPLDV | 
    450:
    QWNDLDYMDS | RRDFTFNKDG | FRDFPAMVQE | LHQGGRRYMM | IVDPAISSSG | 
    500:
    PAGSYRPYDE | GLRRGVFITN | ETGQPLIGKV | WPGSTAFPDF | TNPTALAWWE | 
    550:
    DMVAEFHDQV | PFDGMWIDMN | EPSNFIRGSE | DGCPNNELEN | PPYVPGVVGG | 
    600:
    TLQAATICAS | SHQFLSTHYN | LHNLYGLTEA | IASHRALVKA | RGTRPFVISR | 
    650:
    STFAGHGRYA | GHWTGDVWSS | WEQLASSVPE | ILQFNLLGVP | LVGADVCGFL | 
    700:
    GNTSEELCVR | WTQLGAFYPF | MRNHNSLLSL | PQEPYSFSEP | AQQAMRKALT | 
    750:
    LRYALLPHLY | TLFHQAHVAG | ETVARPLFLE | FPKDSSTWTV | DHQLLWGEAL | 
    800:
    LITPVLQAGK | AEVTGYFPLG | TWYDLQTVPV | EALGSLPPPP | AAPREPAIHS | 
    850:
    EGQWVTLPAP | LDTINVHLRA | GYIIPLQGPG | LTTTESRQQP | MALAVALTKG | 
    900:
    GEARGELFWD | DGESLEVLER | GAYTQVIFLA | RNNTIVNELV | RVTSEGAGLQ | 
    950:
    LQKVTVLGVA | TAPQQVLSNG | VPVSNFTYSP | DTKVLDICVS | LLMGEQFLVS | 
    952:
    WC
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    UniGene:
    MIM:
    Pfam:
    Pfam:
    KEGG:
    SMR:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    E0177h
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    E0177m
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    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    ELISA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    E0177b
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    ELISA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    E0177r
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    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    U0177r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    U0177b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    U0177m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Lysosomal alpha-glucosidase
    Cat.:
    U0177h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    Polyclonal Antibody for Human Lysosomal alpha-glucosidase
    Cat.:
    P0177Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Lysosomal alpha-glucosidase
    Polyclonal Antibody for Human Lysosomal alpha-glucosidase
    Cat.:
    P0177Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Lysosomal alpha-glucosidase
    Cat.:
    P0177Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Lysosomal alpha-glucosidase
    Monoclonal Antibody for Human Lysosomal alpha-glucosidase
    Monoclonal Antibody for Human Lysosomal alpha-glucosidase
    Monoclonal Antibody for Human Lysosomal alpha-glucosidase
    Protein for Human Lysosomal alpha-glucosidase
    Protein for Human Lysosomal alpha-glucosidase
    Protein for Human Lysosomal alpha-glucosidase
    Protein for Human Lysosomal alpha-glucosidase

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex."
      Hoefsloot L.H. , Hoogeveen-Westerveld M. , Kroos M.A. , van Beeumen J. , Reuser A.J.J. , Oostra B.A.
      EMBO J.7:1697-1704(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];PROTEIN SEQUENCE OF 70-89; 123-145; 204-215; 230-249; 332-345; 349-370; 394-409; 480-513; 520-545; 703-719; 726-731 AND 795-803;VARIANTS ARG-199; HIS-223 AND ILE-780
      tissue: Placenta.
      tissue: Testis.
      tissue: Urine.
    2. 2.
      Reuser A.J.J.
      Submitted (1990-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION
    3. 3.
      "Characterization of the human lysosomal alpha-glucosidase gene."
      Hoefsloot L.H. , Hoogeveen-Westerveld M. , Reuser A.J.J. , Oostra B.A.
      Biochem. J.272:493-497(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ILE-780
    4. 4.
      "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences."
      Martiniuk F. , Mehler M. , Tzall S. , Meredith G. , Hirschhorn R.
      DNA Cell Biol.9:85-94(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT ILE-780
    5. 5.
      "Identification of a novel mutation in the acid alpha glucosidase gene causing juvenile form of Pompe disease in Iranian population."
      Ghaffari S.R. , Sabokbar T. , Tahmasebi S. , Dastan J.
      Submitted (2006-08) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT GSD2 LEU-457;VARIANTS ARG-199; HIS-223 AND ILE-780
    6. 7.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Duodenum.
    7. 8.
      "Identification of a de novo point mutation resulting in infantile form of Pompe's disease."
      Lin C.-Y. , Shieh J.-J.
      Biochem. Biophys. Res. Commun.208:886-893(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 631-680;VARIANT GSD2 HIS-645
    8. 9.
      "Human lysosomal alpha-glucosidase. Characterization of the catalytic site."
      Hermans M.M.P. , Kroos M.A. , van Beeumen J. , Oostra B.A. , Reuser A.J.J.
      J. Biol. Chem.266:13507-13512(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF TRP-516 AND ASP-518;ACTIVE SITE
    9. 10.
      "Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites."
      Hermans M.M.P. , Wisselaar H.A. , Kroos M.A. , Oostra B.A. , Reuser A.J.J.
      Biochem. J.289:681-686(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-140; ASN-233; ASN-390; ASN-470; ASN-652; ASN-882 AND ASN-925
    10. 11.
      "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
      Zhang H. , Li X.-J. , Martin D.B. , Aebersold R.
      Nat. Biotechnol.21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-470
    11. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    12. 13.
      "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
      J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-390
      tissue: Plasma.
    13. 14.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
      tissue: Placenta.
    14. 15.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-140; ASN-470; ASN-882 AND ASN-925
      tissue: Liver.
    15. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    16. 17.
      "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells."
      Martiniuk F. , Bodkin M. , Tzall S. , Hirschhorn R.
      Am. J. Hum. Genet.47:440-445(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-91
    17. 18.
      "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 the second allele."
      Zhong N. , Martiniuk F. , Tzall S. , Hirschhorn R.
      Am. J. Hum. Genet.49:635-645(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 THR-318
    18. 19.
      "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II."
      Hermans M.M.P. , de Graaff E. , Kroos M.A. , Wisselaar H.A. , Oostra B.A. , Reuser A.J.J.
      Biochem. Biophys. Res. Commun.179:919-926(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 LYS-521
    19. 20.
      "Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II."
      Hermans M.M.P. , Kroos M.A. , de Graaff E. , Oostra B.A. , Reuser A.J.J.
      Hum. Mutat.2:268-273(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 ARG-643 AND TRP-725
    20. 21.
      "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 M.M.P. , de Graaff E. , Kroos M.A. , Wisselaar H.A. , Willemsen R. , Oostra B.A. , Reuser A.J.J.
      Biochem. J.289:687-693(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLU-645;VARIANTS ILE-816 AND ILE-927
    21. 22.
      "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.10:681-687(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLU-645;VARIANTS ILE-816 AND ILE-927
    22. 23.
      "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 M.M.P. , Svetkey L.P. , Oostra B.A. , Chen Y.T. , Reuser A.J.J.
      Genomics16:300-301(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-816 AND ILE-927
    23. 24.
      "Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)."
      Huie M.L. , Hirschhorn R. , Chen A.S. , Martiniuk F. , Zhong N.
      Hum. Mutat.4:291-293(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 VAL-519
    24. 25.
      "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 M.L. , Chen A.S. , Brooks S.S. , Grix A. , Hirschhorn R.
      Hum. Mol. Genet.3:1081-1087(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 TRP-647
    25. 26.
      "The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II."
      Hermans M.M.P. , de Graaff E. , Kroos M.A. , Mohkamsing S. , Eussen B.J. , Joosse M. , Willemsen R. , Kleijer W.J. , Oostra B.A. , Reuser A.J.J.
      Hum. Mol. Genet.3:2213-2218(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 LEU-545
    26. 27.
      "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II."
      Boerkoel C.F. , Exelbert R. , Nicastri C. , Nichols R.C. , Miller F.W. , Plotz P.H. , Raben N.
      Am. J. Hum. Genet.56:887-897(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 ARG-299 AND LYS-903 DEL;VARIANTS ARG-199; HIS-223 AND ILE-780
    27. 28.
      "Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)."
      Huie M.L. , Menaker M. , McAlpine P.J. , Hirschhorn R.
      Ann. Hum. Genet.60:365-368(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LYS-689
    28. 29.
      "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.97:496-499(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 VAL-529
    29. 30.
      "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 M.L. , Tsujino S. , Brooks S.S. , Engel A. , Elias E. , Bonthron D.T. , Bessley C. , Shanske S. , Dimauro S. , Goto Y. , Hirschhorn R.
      Biochem. Biophys. Res. Commun.244:921-927(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 ASN-645; TRP-647; SER-648; GLN-672 AND TRP-672
    30. 31.
      "Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene."
      Kroos M.A. , van Leenen D. , Verbiest J. , Reuser A.J.J. , Hermans M.M.P.
      Clin. Genet.53:379-382(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 ARG-309
    31. 32.
      "Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry."
      Hermans M.M.P. , Kroos M.A. , Smeitink J.A.M. , van der Ploeg A.T. , Kleijer W.J. , Reuser A.J.J.
      Hum. Mutat.11:209-215(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-566; ARG-643 AND ARG-768;VARIANTS ASN-91; ARG-199 AND HIS-223
    32. 33.
      "The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II."
      Beesley C.E. , Child A.H. , Yacoub M.Y.
      Hum. Mutat.11:413-413(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLY-VAL-PRO-VAL-SER-ASN-925 INS
    33. 34.
      "Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients."
      Vorgerd M. , Burwinkel B. , Reichmann H. , Malin J.-P. , Kilimann M.W.
      Neurogenetics1:205-211(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 LEU-545 AND TRP-638
    34. 35.
      "Novel mutations in African American patients with glycogen storage disease Type II."
      Raben N. , Lee E. , Lee L. , Hirschhorn R. , Plotz P.H.
      Hum. Mutat.13:83-84(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 ARG-481
    35. 36.
      "Molecular genetic study of Pompe disease in Chinese patients in Taiwan."
      Ko T.-M. , Hwu W.-L. , Lin Y.-W. , Tseng L.-H. , Hwa H.-L. , Wang T.-R. , Chuang S.-M.
      Hum. Mutat.13:380-384(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2;VARIANTS
    36. 37.
      "Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation."
      Laforet P. , Nicolino M. , Eymard P.B. , Puech J.P. , Caillaud C. , Poenaru L. , Fardeau M.
      Neurology55:1122-1128(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-208; LEU-308; LEU-324; MET-585; 607-GLY--HIS-612 DEL; ARG-643 AND THR-672
    37. 38.
      "Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)."
      Fernandez-Hojas R. , Huie M.L. , Navarro C. , Dominguez C. , Roig M. , Lopez-Coronas D. , Teijeira S. , Anyane-Yeboa K. , Hirschhorn R.
      Neuromuscul. Disord.12:159-166(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 ARG-219; LYS-262 AND VAL-408
    38. 39.
      "Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II."
      Pittis M.G. , Montalvo A.L. , Miocic S. , Martini C. , Deganuto M. , Candusso M. , Ciana G. , Bembi B.
      Am. J. Med. Genet. A121:225-230(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 TRP-224;CHARACTERIZATION OF VARIANT GSD2 TRP-224
    39. 40.
      "Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene."
      Lam C.W. , Yuen Y.P. , Chan K.Y. , Tong S.F. , Lai C.K. , Chow T.C. , Lee K.C. , Chan Y.W. , Martiniuk F.
      Neurology60:715-717(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 LEU-361 AND CYS-437
    40. 41.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 TRP-224; CYS-600; ARG-619 AND HIS-660;CHARACTERIZATION OF VARIANTS GSD2 TRP-224; ARG-619 AND HIS-660;CHARACTERIZATION OF VARIANT SER-576
    41. 42.
      "Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II."
      Hermans M.M.P. , van Leenen D. , Kroos M.A. , Beesley C.E. , Van der Ploeg A.T. , Sakuraba H. , Wevers R. , Kleijer W.J. , Michelakakis H. , Kirk E.P. , Fletcher J. , Bosshard N. , Basel-Vanagaite L. , Besley G. , Reuser A.J.J.
      Hum. Mutat.23:47-56(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 GLY-103; ARG-219; ARG-285; CYS-292; ARG-293; PRO-308; ARG-312; PRO-355; ARG-374; PRO-405; PHE-455; ASP-459 DEL; ARG-478; ARG-481; THR-519; LEU-545; ARG-549; PRO-552; SER-575; LYS-579; CYS-600; ASP-607 AND ASP-880;CHARACTERIZATION OF VARIANTS
    42. 43.
      "Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease."
      Montalvo A.L.E. , Cariati R. , Deganuto M. , Guerci V. , Garcia R. , Ciana G. , Bembi B. , Pittis M.G.
      Mol. Genet. Metab.81:203-208(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-355 AND CYS-702;CHARACTERIZATION OF VARIANTS GSD2 PRO-355 AND CYS-702
    43. 44.
      "A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn."
      Kroos M.A. , Kirschner J. , Gellerich F.N. , Hermans M.M. , Van der Ploeg A.T. , Reuser A.J. , Korinthenberg R.
      Neuromuscul. Disord.14:371-374(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLN-901;VARIANT ASN-645
    44. 45.
      "Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype."
      Anneser J.M. , Pongratz D.E. , Podskarbi T. , Shin Y.S. , Schoser B.G.
      Neurology64:368-370(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 VAL-237 AND ARG-293
    45. 46.
      "A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease."
      Dou W. , Gu X. , Fu L. , Peng C. , Zheng J. , Martiniuk F. , Sheng H.Z.
      Clin. Chim. Acta374:145-146(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLY-330
    46. 47.
      "Two clinical forms of glycogen-storage disease type II in two generations of the same family."
      Amartino H. , Painceira D. , Pomponio R.J. , Niizawa G. , Sabio Paz V. , Blanco M. , Chamoles N.
      Clin. Genet.69:187-188(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLY-ASN-404
    47. 48.
      "Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II."
      Montalvo A.L. , Bembi B. , Donnarumma M. , Filocamo M. , Parenti G. , Rossi M. , Merlini L. , Buratti E. , De Filippi P. , Dardis A. , Stroppiano M. , Ciana G. , Pittis M.G.
      Hum. Mutat.27:999-1006(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 ARG-309; PRO-355; LEU-361; PRO-445; ASN-489; ARG-549; GLN-612; ARG-643; TRP-672 AND CYS-746
    48. 49.
      "Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients."
      Muller-Felber W. , Horvath R. , Gempel K. , Podskarbi T. , Shin Y. , Pongratz D. , Walter M.C. , Baethmann M. , Schlotter-Weigel B. , Lochmuller H. , Schoser B.
      Neuromuscul. Disord.17:698-706(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-355; ALA-522 AND VAL-610;VARIANT ARG-359
    49. 50.
      "Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating."
      Kroos M. , Pomponio R.J. , van Vliet L. , Palmer R.E. , Phipps M. , Van der Helm R. , Halley D. , Reuser A.
      Hum. Mutat.29:E13-E26(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 HIS-190; SER-285; PHE-291; PRO-291; LYS-318; ARG-335; ARG-347; ARG-482; VAL-483; GLN-521; SER-522; LYS-570; GLN-572; PRO-594; LYS-614; ASN-737; SER-746 AND PRO-935;VARIANT LYS-585
    50. 51.
      "Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease."
      Pittis M.G. , Donnarumma M. , Montalvo A.L.E. , Dominissini S. , Kroos M. , Rosano C. , Stroppiano M. , Bianco M.G. , Donati M.A. , Parenti G. , D'Amico A. , Ciana G. , Di Rocco M. , Reuser A. , Bembi B. , Filocamo M.
      Hum. Mutat.29:E27-E36(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 GLY-103; CYS-191; ARG-219; TRP-224; LYS-262; ARG-293; PRO-355; LEU-375; ARG-401; ASN-489; ALA-522; PRO-552; TYR-599; TRP-638; ARG-643 AND ASN-645;CHARACTERIZATION OF VARIANTS GSD2 CYS-191; LEU-375; ARG-401; ALA-522 AND TYR-599
    51. 52.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-46; LEU-217; PRO-486; PRO-594; TYR-612; LYS-635 AND VAL-638
    52. 53.
      "Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene."
      Alcantara-Ortigoza M.A. , Gonzalez-del Angel A. , Barrientos-Rios R. , Cupples C. , Garrido-Garcia L.M. , de Leon-Bojorge B. , Alva-Chaire Adel C.
      J. Child Neurol.25:1034-1037(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 SER-558
    53. 54.
      "Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program."
      Labrousse P. , Chien Y.H. , Pomponio R.J. , Keutzer J. , Lee N.C. , Akmaev V.R. , Scholl T. , Hwu W.L.
      Mol. Genet. Metab.99:379-383(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 PRO-224; LEU-251; LEU-254; LYS-262; SER-266; PRO-291; VAL-408; ARG-478; TYR-525; LEU-545; PHE-557; ARG-615; GLU-645; GLY-746 AND CYS-746;VARIANTS ALA-271 AND ARG-711
    54. 55.
      "Late form of Pompe disease with glycogen storage in peripheral nerves axons."
      Fidzianska A. , Lugowska A. , Tylki-Szymanska A.
      J. Neurol. Sci.301:59-62(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD2 GLY-103;VARIANT ASN-91
    55. 56.
      "Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants."
      Kroos M. , Hoogeveen-Westerveld M. , Michelakakis H. , Pomponio R. , Van der Ploeg A. , Halley D. , Reuser A. , Augoustides-Savvopoulou P. , Ausems M. , Llona J.B. , Bautista Lorite J. , van der Beek N. , Bonafe L. , Cuk M. , D'Hooghe M. , Engelen B. , Farouk A. , Fumic K. , more...
      Hum. Mutat.33:1161-1165(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HIS-74; HIS-89; LEU-220; MET-222; ASP-290; GLY-310; VAL-391; CYS-458; ASP-611; LEU-629; 700-THR-LEU-701 DEL AND ILE-718;VARIANTS GSD2 ARG-103; GLY-108; PHE-127; GLN-224; ARG-234; LYS-234; ILE-316; GLU-335; LEU-361; LEU-397; VAL-419; HIS-457; TYR-523; SER-558; CYS-575; ARG-576; HIS-594; LEU-601; ALA-602; PRO-627; ASP-648; LEU-702; LYS-743; PRO-819 AND PHE-916
    56. 57.
      "A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations."
      Herzog A. , Hartung R. , Reuser A.J. , Hermanns P. , Runz H. , Karabul N. , Goekce S. , Pohlenz J. , Kampmann C. , Lampe C. , Beck M. , Mengel E.
      Orphanet J. Rare Dis.7:35-35(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD2 LYS-234; 431-LEU--GLN-433 DEL; LEU-568; LEU-601; CYS-766 AND ARG-913
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