Journal of Inherited Metabolic Disease

, Volume 17, Issue 1, pp 145–148

Point mutation in Pompe disease in Chinese

  • J. J. Shieh
  • L. Y. Wang
  • C. Y. Lin
Korean IEM Workshop 1993


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  1. Favaloro J, Freisman R, Kamen R (1980) Transcription maps of polyma virus-specific RNA: Analysis by two dimensional nuclease S1 gel mapping.Methods Enzymol 65: 718–749.Google Scholar
  2. Hoefsloot LH, Hoogeveen-Westerveld M, Kroos M, Van Beeumen J, Reuser AJJ, Oostra BA (1988) Primary structure and processing of lysosomal α-glucosidase; homology with intestinal sucrase-isomaltase complex.EMBO J 7: 1697–1704.Google Scholar
  3. Lin CY, Hwang B, Hsiao KJ, Jin YR (1987) Pompe's disease in Chinese and prenatal diagnosis by determination of α-glucosidase activity.J Inher Metab Dis 10: 11–17.Google Scholar
  4. Lin CY, Lee SY, Chang ZN, Su SN, Hwang B, Han SH (1992) Preparation of monoclonal antibodies against acid α-d-glucosidase for study of Chinese glycogenosis type II patients.Hybridoma 11: 493–505.Google Scholar
  5. Loonen MCB (1979) The variability of Pompe's disease.Grafische Verzorging. Davis Decor Alblasserdam.Google Scholar
  6. Melton DA, Krieg PA, Rebagliati MR (1984) Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.Nucl Acids Res 12: 7035–7056.Google Scholar
  7. Pan BA, Kaback MM, Neufeld EF (1989) Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the α subunit of β-hexosaminidase.Proc Natl Acad Sci USA 86: 2413–2417.Google Scholar
  8. Pompe JC (1932) Over idiopatische hypertrophie van het hart.Ned T Geneesk 76: 304–311.Google Scholar
  9. Salafsky IS, Nadler HL (1971) Alpha-1,4-glucosidase activity in Pompe's disease.J Pediatr 79: 794–798.Google Scholar
  10. Sambrook J, Fritsch EF, Maniatis T (1989)Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.Google Scholar
  11. Sanger F, Niklen S, Coulson AR (1977) DNA sequencing with chain-termination inhibitors.Proc Natl Acad Sci USA 74: 5463–5467.Google Scholar
  12. Sharp PA, Sugden B, Sambrook J (1973) Detection of two restriction endonuclease activities inHaemophilus parainfluenzae using analytical agarose ethidium bromide electrophoresis.Biochemistry 12: 3055–3063.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • J. J. Shieh
    • 1
  • L. Y. Wang
    • 1
  • C. Y. Lin
    • 2
  1. 1.Institute of Microbiology and ImmunologyNational Yang-Ming Medical CollegeTaipeiTaiwan 11217, Republic of China
  2. 2.Departments of Medical Research and PediatricsVeterans General Hospital-TaipeiTaipeiTaiwan 11217, Republic of China

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