Neurokutane Porphyrien

Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H (2015) Porphyrias: a 2015 update. Clin Res Hepatol Gastroenterol 39(4):412–425 Barnes HD (1951) Further South African cases of porphyrinuria. S Afr J Clin Sci 2(2):117–169 Eales L, Day RS, Blekkenhorst GH (1980) The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 12(5–6):837–853 Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM (2001) Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. Hum Hered 51(3):160–168 Frank J, Christiano AM (1998) Variegate porphyria: past, present and future. Skin Pharmacol Appl Skin Physiol 11(6):310–320 Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG et al (1996) A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 13(1):95–97 Poblete-Gutierrez P, Wolff C, Farias R, Frank J (2006) A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. Br J Dermatol 154(2):368–371 Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM (1998) Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J Invest Dermatol 110(4):452–455 Crimlisk HL (1997) The little imitator–porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 62(4):319–328 Bonkovsky HL (1993) Advances in understanding and treating ‚the little imitator,‘ acute porphyria. Gastroenterology 105(2):590–594 Timonen K, Niemi KM, Mustajoki P, Tenhunen R (1990) Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res 282(2):108–114 Poh-Fitzpatrick MB (1980) A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 116(5):543–547 Watson CJ, Schwartz S, Schulze W, Jacobson LO, Zagaria R (1949) Studies of coproporphyrin. Iii. idiopathic coproporphyrinuria; a hitherto unrecognized form characterized by lack of symptoms in spite of the excretion of large amounts of coproporphyrin. J Clin Invest 28(3):465–468 Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutierrez P, Frank J (2010) The acute hepatic porphyrias: current status and future challenges. Best Pract Res Clin Gastroenterol 24(5):593–605 Martasek P (1998) Hereditary coproporphyria. Semin Liver Dis 18(1):25–32 Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD et al (2014) RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A 111(21):7777–7782 Chan A, Liebow A, Yasuda M, Gan L, Racie T, Maier M et al (2015) Preclinical development of a Subcutaneous ALAS1 RNAi therapeutic for treatment of hepatic porphyrias using circulating RNA quantification. Mol Ther Nucleic Acids 4:e263