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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  
  3. Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Urea cycle disorders-update. J Hum Genet. 2019 Sep;64(9):833-847. PMID: 31110235 PubMed  
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  5. Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. PMID: 34014557. PubMed  
  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