Glutarsyreemi or "organic acidemias" Treff i utvalgte kilder: [Skjul boksen]
  1. 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 ...
  2. 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 ...
  3. 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 ...
  4. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. Frambu
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    www.frambu.no/glutarsyreuri-type-1
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    Glutarsyreuri (glutarsyreemi) type I (GA I) er en arvelig, medfødt stoffskiftesykdom som skyldes mangelfull nedbrytning av aminosyrene lysin og ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/436/differentials
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    ... Serum ammonia may be elevated (urea cycle defect, organic acidemias). Arterial blood gas can show a metabolic acidosis ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/aetiology
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    ... devastating if unrecognized. Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with ...
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