Glutarsyreemi or "organic acidemias" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/pdf/686.pdf
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    ... ganglia lesions, and patients can have status dystonicus. • Organic acidemias with neurotoxic metabolites can cause both acute basal ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ...
  2. Frambu
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    www.frambu.no/diagnoser
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    ... Klinefelters syndrom Fragilt X syndrom Gangliosidose type II Glutarsyreemi Alexanders sykdom Adult nevronal ceroid lipofuscinose I-cellesykdom ... Genfeil, svært sjeldne som gir sammensatte ... type 1 Glycosylasparginasemangel GM 2 Guanidinoacetat ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/pdf/1198.pdf
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    ... devastating if unrecognized. Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/differentials
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    ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1027/pdf/1027.pdf
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    ... These include urea cycle disorders, glycogen storage disease, organic acidemias, primary carnitine deficiency, hereditary fructose intolerance, and fatty ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/739/pdf/739.pdf
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    ... insufficiency. • Urinary organic acids, specifically to look for organic acidemias, peroxisomal diseases, and mitochondrial diseases. • Urinary bile acids ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/urgent-considerations
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    ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ... Treating severe hyperammonemia (if present, can occur in organic acidemias) with dialysis or ammonia scavengers; severe leucinosis in ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/diagnosis-approach
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    ... acute or subacute-onset dystonia with encephalopathy are organic acidemias with toxic metabolites (where acute and chronic metabolic ... of symptoms due to intoxication etiologies, such as organic acidemias, MRI may show edematous or necrotic basal ganglia ...
  9. Frambu
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    www.frambu.no
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    ... Klinefelters syndrom Fragilt X syndrom Gangliosidose type II Glutarsyreemi Alexanders sykdom Adult nevronal ceroid lipofuscinose I-cellesykdom ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/436/pdf/436.pdf
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    ... Serum ammonia may be elevated (urea cycle defect, organic acidemias). Arterial blood gas can show a metabolic acidosis ...
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