Hereditary Metabolic Diseases and Stem Cell Transplantation

  • G. Peter A. Smit
Part of the Developments in Hematology and Immunology book series (DIHI, volume 37)


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.


Lysosomal Storage Disease Autosomal Recessive Mode Bone Marrow Disease Lysosomal Disease Cell Gene Therapy 
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Copyright information

© Springer Science+Business Media Dordrecht 2002

Authors and Affiliations

  • G. Peter A. Smit
    • 1
  1. 1.Department of Metabolic DiseasesBeatrix Children’s Hospital University HospitalGroningenNL

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