Propionacidemi or propionsyreemi or "organic acidemia" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/478
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    ... hepatocellular carcinoma, and nephropathy. Definition Type I glycogen storage disease (GSD I) is a disorder of glucose production. ... interests. David A. Weinstein, MD, MMSc Director Glycogen Storage Disease Program University of Florida College of Medicine Gainesville ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/478/guidelines
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    ... videos Evidence Drugs English Português Type I glycogen storage disease View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/images-and-videos
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    ... Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... PDF Images and videos Images Common hereditary lysosomal storage diseases Bone marrow aspirate showing a typical Gaucher cell. ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/guidelines
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    ... Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/images-and-videos
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    ... Drugs Images and videos Images Common hereditary lysosomal storage diseases Bone marrow aspirate showing a typical Gaucher's ... of Professor Atul B. Mehta Common hereditary lysosomal storage diseases Skeletal MRI in type 1 Gaucher's disease ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021
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    ... reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of ... reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/478/differentials
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    ... videos Evidence Drugs English Português Type I glycogen storage disease View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... videos References View PDF Differentials VIEW ALL  Glycogen storage disease type III (GSD III) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/478/differentials
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    ... Procedural videos Evidence Drugs Differentials VIEW ALL  Glycogen storage disease type III (GSD III) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / ... establish a specific diagnosis for this disease. Glycogen storage disease type VI and IX (GSD VI and IX) ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/478/aetiology
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    ... videos Evidence Drugs English Português Type I glycogen storage disease View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... production and decreased clearance of triglycerides. Classification Glycogen storage disease (GSD) I Deficient catalytic activity of the glucose- ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/criteria
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    ... Evidence Drugs English Português Español Common hereditary lysosomal storage diseases View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ...
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