"nevronal ceroid lipofuscinose" or "lysosomale avleiringssykdommer" or lysosomal Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021
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    ... 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 ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/images-and-videos
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    ... 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 ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/guidelines
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    ... 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 ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/images-and-videos
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    ... Evidence Drugs Images and videos Images Common hereditary lysosomal storage diseases Bone marrow aspirate showing a typical ... collection of Professor Atul B. Mehta Common hereditary lysosomal storage diseases Skeletal MRI in type 1 Gaucher' ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/criteria
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    ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... nih.gov/pubmed/15025723?tool=bestpractice.com Other lysosomal storage disease (LSD) scoring systems Examples of other ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/aetiology
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    ... 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 ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/references
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    ... 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( ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021
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    ... videos Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   ... substrate reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/epidemiology
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    ... 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 ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/diagnosis-approach
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    ... 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 ...
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