Metylmalonsyreemi or "organic acidemias" or "methylmalonic acidaemia" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... nlm.nih.gov/pubmed/21431622?tool=bestpractice.com Methylmalonic acidaemia History Exam 1st investigation Other investigations lethargy, developmental ...
  2. felleskatalogen
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    https://www.felleskatalogen.no/medisin/carbaglu-orphan-europe-630423
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    ... kargluminsyre før langtidsbehandling initieres, se SPC for eksempler. Isovaleriansyreemi, metylmalonsyreemi og propionsyreemi: Behandling bør starte ved hyperammonemi hos ...
  3. helse-forgiftninger-felles
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    https://www.felleskatalogen.no/.../carbaglu-orphan-europe-630423
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    ... kargluminsyre før langtidsbehandling initieres, se SPC for eksempler. Isovaleriansyreemi, metylmalonsyreemi og propionsyreemi: Behandling bør starte ved hyperammonemi hos ...
  4. felleskatalogen
    -
    https://www.felleskatalogen.no/.../carbaglu-orphan-europe-630423
    /
    ... kargluminsyre før langtidsbehandling initieres, se SPC for eksempler. Isovaleriansyreemi, metylmalonsyreemi og propionsyreemi: Behandling bør starte ved hyperammonemi hos ...
  5. helse-forgiftninger-felles
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    https://www.felleskatalogen.no/.../carbaglu-orphan-europe-630423
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    ... kargluminsyre før langtidsbehandling initieres, se SPC for eksempler. Isovaleriansyreemi, metylmalonsyreemi og propionsyreemi: Behandling bør starte ved hyperammonemi hos ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... tryptophan. [ 33] Dystonia can also be seen in: methylmalonic acidaemia, propionic acidaemia, and acute leucine encephalopathy due to ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ...
  7. 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 ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/urgent-considerations
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    ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ... responsive disorders, such as hydroxocobalamin for B12-responsive methylmalonic acidaemia, and biotin with thiamine for DYT-SLC19A3 (biotin- ...
  9. 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 ...
  10. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/.../akutte-stoffskiftesykdommer
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    ... MCAD, VLCAD, LCHAD/TFP), ureasyklusdefekter, organiske acidurer (propionsyreemi, metylmalonsyreemi, isovaleriansyreemi, glutarsyreuri), aminoacidopatier (eks MSUD). Prinsippene for behandling ...
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