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Ureasyklus forstyrrelser

Sist oppdatert: Publisert:


  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
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  2. Blair NF, Cremer PD, Tchan MC. Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults. Pract Neurol. 2015. pmid:25125564 PubMed  
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  6. Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A. Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature. Int J Mol Sci. 2018. pmid:29364180 PubMed  
  7. Bigot A, et al. Psychiatric adult-onset of urea cycle disorders: A case-series. Mol Genet Metab Rep. 2017. pmid:28725569 PubMed  
  8. Mehta S1, Tayabali S2, Lachmann R3.. Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report. J Med Case Rep. 2018. pmid:29769109 PubMed  
  9. Chen L, Zhao B, Shang H. Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia. Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia 2017. pmid:28847840 PubMed