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Fabrys sykdom

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. El-Abassi R1, Singhal D2, England JD3.. Fabry's disease. J Neurol Sci. 2014 ; Sep 15;344: 1-2. pmid:25106696 PubMed  
  2. Ranieri M, Bedini G, Parati EA, Bersano A. Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features. Curr Treat Options Neurol. 2016 Jul;18(7):33 . pmid:27225543 PubMed  
  3. Finsterer J1, Wanschitz J2, Quasthoff S3, Iglseder S4, Löscher W2, Grisold W5. Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. Acta Neurol Scand. 2017. PMID: 28295152 PubMed  
  4. Samuelsson K, Radovic A, Press R, Auranen M, Ylikallio E, Tyynismaa H, Kärppä M, Veteläinen M, Peltola N, Mellgren SI, Mygland Å, Tallaksen C, Andersen H, Terkelsen AJ, Fontain F, Hietaharju A. Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy. Muscle Nerve. 2018 Sep 24. PMID: 30246259 PubMed  
  5. Ortíz JF, Solís MB, Ali SS, Khurana M, Moncayo JA, Kothari NY, Alzamora M, Eissa-Garces A, Patel G, Monteros GA, Sen M, Quiñonez J. Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis. Neurol Int. 2022 Jun 1;14(2):497-505. doi: 10.3390/neurolint14020041. PMID: 35736622 PubMed  
  6. Lyndon D, Davagnanam I, Wilson D, Jichi F, Merwick A, Bolsover F, Jager HR, Cipolotti L, Wheeler-Kingshott C, Hughes D, Murphy E, Lachmann R, Werring DJ. MRI-visible perivascular spaces as an imaging biomarker in Fabry disease. J Neurol. 2020 Oct 19. PMID: 33078310. PubMed  
  7. Böttcher T1, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T.. Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?. PLoS One 2013 . pmid:24015197 PubMed  
  8. El Dib R, Gomaa H, Carvalho RP, Camargo SE, Bazan R, Barretti P, Barreto FC. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2016 Jul 25;7:CD006663 . pmid:27454104 PubMed  
  9. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. PMID: 30017653 PubMed  
  10. van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M. Developments in the treatment of Fabry disease. J Inherit Metab Dis. 2020 Sep;43(5):908-921. PMID: 32083331 PubMed  
  • Unn Ljøstad, spesialist i nevrologi, PhD
  • Åse Mygland, spesialist i nevrologi, dr med