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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    ... diseases, such as glutaric aciduria type 1 and methylmalonic acidaemia. In particular, conditions accelerating catabolic state (e.g., ... diagnosed promptly and treated aggressively. [ 52] [ 53] In methylmalonic acidaemia, early diagnosis and appropriate long-term treatment are ...
  7. 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 ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/urgent-considerations
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    ... diseases, such as glutaric aciduria type 1 and methylmalonic acidaemia. In particular, conditions accelerating catabolic state (e.g., ... nih.gov/pubmed/15954035?tool=bestpractice.com In methylmalonic acidaemia, early diagnosis and appropriate long-term treatment are ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686
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    ... syndrome Kernicterus Glutaric aciduria type I (CGDH deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ... syndrome Kernicterus Glutaric aciduria type I (CGDH deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ...
  10. 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 ...
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