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Hereditary Metabolic Diseases and Stem Cell Transplantation

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Part of the book series: Developments in Hematology and Immunology ((DIHI,volume 37))

Abstract

The majority of metabolic diseases is transmitted in the autosomal recessive mode. In this publication metabolic diseases following this mode of transmission will be discussed. For reasons of simplification these metabolic diseases are divided in bone marrow related (BR) and non-bone marrow related (non-BR). In the bone marrow related metabolic diseases the biochemical defect is expressed within the bone marrow resulting in bone marrow disease and ultimately in progressive bone abnormalities.

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References

  1. Beck M. Mucopolysaccharides and Oligosaccharides. In: Fernandes J, Saudubray.M, van den Berghe G (eds), Inborn Metabolic Diseases, Diagnosis and Treatment. Springer Verlag ISBN 3–540–65626. Third edition, 2001.

    Google Scholar 

  2. Steward CG. Bone marrow transplantation for genetic diseases. In: Fairbarn LJ, Testa NG (eds) Blood cell Biochemistry. Volume 8: Haemopoiesis and Gene Therapy. New York: Kluwer Academic/Plenum Publishers. 13–56.

    Google Scholar 

  3. Wraith JE. Advances in the treatment of lysosomal storage disease. Dev Med Child Neurol 2001; 43: 639–46.

    Article  PubMed  CAS  Google Scholar 

  4. Poorthuis BJ, Wevers RA, KLeijer WJ, et al. The frequency of lysosomal storage disease in The Netherlands. Human Genetics 1999; 105: 151–56.

    PubMed  CAS  Google Scholar 

  5. Koç ON, Peters Ch, Augbourg P, et al.. Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogenic transplantation in patients with lysosomal and peroxysomal storage diseases. Exp Hematol 1999; 27: 1675–81.

    Article  PubMed  Google Scholar 

  6. Schumann EH. Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. Chem Phys Lipids 1999; 102: 179–88.

    Article  Google Scholar 

  7. Baxter MA, Wynn RF, Deakin JA, et al. Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I. Blood 2002; 99: 1857–59.

    Article  PubMed  Google Scholar 

  8. Platt FM, Jeyakumar M, Andersson U, Priestmann DA, Dwek RA, Butters TD. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inher Metab Dis 2001; 24: 275–90.

    Article  PubMed  CAS  Google Scholar 

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© 2002 Springer Science+Business Media Dordrecht

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Smit, G.P.A. (2002). Hereditary Metabolic Diseases and Stem Cell Transplantation. In: Sibinga, C.T.S., Dodd, R.Y. (eds) Transmissible Diseases and Blood Transfusion. Developments in Hematology and Immunology, vol 37. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6869-5_12

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  • DOI: https://doi.org/10.1007/978-1-4757-6869-5_12

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4419-5233-2

  • Online ISBN: 978-1-4757-6869-5

  • eBook Packages: Springer Book Archive

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