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Lysosomale sykdommer

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  1. van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG. Lyso-glycosphingolipids: presence and consequences. Essays Biochem. 2020 Sep 23;64(3):565-578. PMID: 32808655 PubMed  
  2. Lad M1, Thomas RH1,2, Anderson K2, Griffiths TD3,2. Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder. Pract Neurol. 2019; Oct;19(5): 420-423. pmid:31243140 PubMed  
  3. Marc C. Patterson, MD; Peter Clayton, MD; Paul Gissen, MD, PhD; Mathieu Anheim, MD, PhD; Peter Bauer, PhD; Olivier Bonnot, MD, PhD; Andrea Dardis, PhD; Carlo Dionisi-Vici, MD; Hans-Hermann Klünemann, MD; Philippe Latour, PharmD; Charles M. Lourenço, MD; Daniel S. Ory, MD; Alasdair Parker, MD, PhD; Miguel Pocoví, PhD; Michael Strupp, MD; Marie T. Vanier, MD, PhD; Mark Walterfang, MBBS, PhD; Thorsten Marquardt, MD, PhD. Recommendationsforthedetection and diagnosis of Niemann-Pick disease type C An update. Neurol Clin Pract 2017;7:1–13 PMID: 29431164 PubMed  
  4. Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. PMID: 30285904 PubMed  
  5. Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y. High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders. J Neurol. 2020 Nov;267(11):3371-3377. doi: 10.1007/s00415-020-10020-4. Epub 2020 Jun 26. PMID: 32592146. PubMed  
  6. Matencio A, Navarro-Orcajada S, González-Ramón A, García-Carmona F, López-Nicolás JM. Recent advances in the treatment of Niemann pick disease type C: A mini-review. Int J Pharm. 2020 Jun 30;584:119440. PMID: 32428546. PubMed  
  7. Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. J Neurol. 2021 Aug 13:1–12. PMID: 34387740 PubMed  
  8. Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. PMID: 29625568 PubMed