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  1. ... substrate reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of one of over 40 lysosomal enzymes, and lead to accumulation of undegraded substrate ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... View PDF Images and videos Images Common hereditary lysosomal storage diseases Bone marrow aspirate showing a typical ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... Guidelines Images and videos References View PDF Etiology Lysosomal storage diseases (LSDs) are single gene disorders usually ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... References View PDF References Key articles Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005 Feb;128( ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... View PDF Epidemiology Although individually rare, collectively the lysosomal storage diseases (LSDs) have an estimated frequency of ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... Images and videos References View PDF Approach The lysosomal storage diseases (LSDs) are a clinically diverse group ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... Images and videos References View PDF Screening The lysosomal storage diseases (LSDs) are inherited disorders; genetic counselors ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... com [109] Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... The heart in Anderson-Fabry disease and other lysosomal storage diseases. Heart. 2007 Apr;93(4):528- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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