Dragneva, S., Szyszka-Niagolov, M., Ivanova, A., Mateva, L., Izumi, R., Aoki, Y., et al. Seven novel mutations in bulgarian patients with acute hepatic porphyrias (AHP). JIMD. Rep., 16, 2014, 57‑64.
Gross, U., Sassa, S., Jacob, K., Deybach, J.C., Nordmann, Y., Frank, M., et al. 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. Clin. Chem., 44(9), 1998, 1892‑6.
Wang, T., Wang, Y., Dong, Q., Xu, C., Zhou, X., Ouyang, Y., et al. X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2. Ann. Transl. Med., 8, 2020, 344.
Nordmann, Y., Puy, H., Da Silva, V., Simonin, S., Robreau, A.M., Bonaiti, C., et al. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J. Intern. Med., 242(3), 1997, 213‑7.
Oliveira Santos, M., Leal Rato, M, Neurology of the acute hepatic porphyrias. J. Neurol. Sci., 428, 2021, 117605.
Wylie, K., Testai, F.D., Neurological manifestations of acute porphyrias. Curr Neurol Neurosci Rep. juill, 22(7), 2022, 355‑62.
Bissell, D.M., Anderson, K.E., Bonkovsky, H.L, Porphyria. Longo DL, éditeur. N. Engl. J. Med., 377(9), 2017, 862‑72.
Tracy, J.A., Dyck, P.J.B., Porphyria and its neurologic manifestations. Handb. Clin. Neurol., 120, 2014, 839‑49.
Brennan, M.J.W., Cantrill, R.C., δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptors. Nature, 280(5722), 1979, 514‑5.
Lin, C.S.Y., Krishnan, A.V., Lee, M.J., Zagami, A.S., You, H.L., Yang, C.C., et al. Nerve function and dysfunction in acute intermittent porphyria. Brain, 131(9), 2008, 2510‑9.
Stein, P.E., Badminton, M.N., Rees, D.C., Update review of the acute porphyrias. Br. J. Haematol., 176(4), 2017, 527‑38.
Júnior, V.R.S., Lemos, V.M.V., Feitosa, I.M.L., Florencio, R., Correia, C.W.B., Fontes, L.B.C., et al. Effect of menstrual cycle on acute intermittent porphyria. Child Neurol. Open., 4, 2017, 2329048X1773617.
Bessis, D., Marque, M., Dereure, O., Porphyries cutanées. EMC - Dermatologie, 2(4), 2007, 1‑12.
Di Pierro, E., De Canio, M., Mercadante, R., Savino, M., Granata, F., Tavazzi, D., et al. Laboratory diagnosis of porphyria. Diagnostics. (Basel), 11(8), 2021, 1343.
Ricci, A., Ventura, P, Givosiran for the treatment of acute hepatic porphyria. Expert. Rev. Clin. Pharmacol. 15 (2022), 383–393.
Petrides, P.E., Therapy follows diagnosis: Old and new approaches for the treatment of acute porphyrias, what we know and what we should know. Diagnostics. (Basel), 12(7), 2022, 1618.
