À propos de cet article

Citez

Actelion Pharmaceuticals Portugal. Food Guidance for Niemann Pick C patients treated with Miglustat [Internet] [In Portuguese]; pp. 1–5. Available from: https://www.spdm.org.pt/media/1120/guia-nutricional-npc-light.pdf. Search in Google Scholar

Araujo EM, Dos Santos L, Coutinho R, Assis V, Brandao N, Almeida D, Conceicao G, Figueredo C, Fonseca H, Lima ML, Lemaire D, Rios D. Genetic and oral tests for the diagnosis of lactose intolerance in mixed-ancestry Brazilians with metabolic syndrome. Lifestyle Genom 12, 1–9, 2019.10.1159/00050169031352438 Search in Google Scholar

Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis 34, 991–1001, 2011.10.1007/s10545-011-9368-721779792 Search in Google Scholar

Bountouvi E, Papadopoulou A, Vanier MT, Nyktari G, Kanellakis S, Michelakakis H, Dinopoulos A. Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations. BMC Med Genet 18, 51, 2017.10.1186/s12881-017-0409-4541595028472934 Search in Google Scholar

Cuisset JM, Sukno S, Trauffler A, Latour P, Dobbelaere D, Michaud L, Vallée L. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. J Med Case Rep 10, 241, 2016.10.1186/s13256-016-1038-9501188827599728 Search in Google Scholar

Li X, Zhan J, Hou Y, Chen S, Hou Y, Xiao Z, Luo D, Lin D. Coenzyme Q10 suppresses oxidative stress and apoptosis via activating the Nrf-2/NQO-1 and NF-κB signaling pathway after spinal cord injury in rats. Am J Transl Res 11, 6544–6552, 2019.10.1155/2019/6493081693077031915512 Search in Google Scholar

Marin T, Contreras P, Castro JF, Chamorro D, Balboa E, Bosch-Morato M, Munoz FJ, Alvarez AR, Zanlungo S. Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice. Nutrients 6, 3000–3017, 2014.10.3390/nu6083000414529125079853 Search in Google Scholar

Martinez AP, de Azevedo GR. The Bristol Stool Form Scale: its translation to Portuguese, cultural adaptation and validation. Rev Lat Am Enfermagem 20, 583–589, 2012.10.1590/S0104-1169201200030002122991122 Search in Google Scholar

Nakamoto FK, Okamoto S, Mitsui J, Sone T, Ishikawa M, Yamamoto Y, Kanegae Y, Nakatake Y, Imaizumi K, Ishiura H, Tsuji S, Okano H. The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy. Sci Rep 8, 14215, 2018.10.1038/s41598-018-32573-1615510230242188 Search in Google Scholar

Remenova T, Morand O, Amato D, Chadha-Boreham H, Tsurutani S, Marquardt T. A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat. Orphanet J Rare Dis 10, 81, 2015.10.1186/s13023-015-0297-7450111826084276 Search in Google Scholar

Saad SMI. Probiotics and prebiotics: The state of the art. Rev Bras Cienc Farm 42, 1–16, 2006.10.1590/S1516-93322006000100002 Search in Google Scholar

Shayman JA, Larsen SD. The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases. J Lipid Res 55, 1215–1225, 2014.10.1194/jlr.R047167407608024534703 Search in Google Scholar

Wagner NRF, Zaparolli MR, Cruz MRR, Schieferdecker MEM, Campos ACL. Intestinal microbiota alterations and use of probiotics in the postoperative Roux-en-Y gastric bypass and vertical sleeve gastrectomy: an integrative review. Arq Bras Cir Dig 31, e1400, 2018.10.1590/0102-672020180001e1400628437330539975 Search in Google Scholar