{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T02:36:16Z","timestamp":1782700576746,"version":"3.54.5"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Objectives.<\/jats:bold>\n                    We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Case report.<\/jats:bold>\n                    A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient\u2019s symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega\u00a03, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions.<\/jats:bold>\n                    We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.\n                  <\/jats:p>","DOI":"10.2478\/enr-2021-0026","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T15:41:19Z","timestamp":1638978079000},"page":"238-241","source":"Crossref","is-referenced-by-count":3,"title":["Nutrition management of Niemann Pick disease type C: A case report"],"prefix":"10.2478","volume":"55","author":[{"given":"Rejane","family":"Viana dos Santos","sequence":"first","affiliation":[{"name":"Nucleus of Research and Extension in Nutritional Genomics and Metabolic Dysfunctions (GENUT), Life Sciences Department \/ University of the State of Bahia (UNEB) , Salvador-BA , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamila","family":"das Neves Ferreira","sequence":"additional","affiliation":[{"name":"University Hospital of Federal University of Sergipe , Aracaju-SE , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Oliveira de Almeida","sequence":"additional","affiliation":[{"name":"Interactive Process of Organs and Systems, Health Sciences Institute \/ Federal University of Bahia (UFBA) , Salvador-BA , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Brito da Silva Fatal","sequence":"additional","affiliation":[{"name":"Life Sciences Department \/ UNEB , Salvador-BA , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edilene Maria","family":"Queiroz Araujo","sequence":"additional","affiliation":[{"name":"Coordinator of Nutrition Course and GENUT, Life Sciences Department \/ UNEB; Interactive Process of Organs and Systems, Health Sciences Institute\/UFBA , Salvador-BA , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,12,7]]},"reference":[{"key":"2026042722154694447_j_enr-2021-0026_ref_001","unstructured":"Actelion Pharmaceuticals Portugal. Food Guidance for Niemann Pick C patients treated with Miglustat [Internet] [In Portuguese]; pp. 1\u20135. Available from: https:\/\/www.spdm.org.pt\/media\/1120\/guia-nutricional-npc-light.pdf."},{"key":"2026042722154694447_j_enr-2021-0026_ref_002","doi-asserted-by":"crossref","unstructured":"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\u20139, 2019.10.1159\/00050169031352438","DOI":"10.1159\/000501690"},{"key":"2026042722154694447_j_enr-2021-0026_ref_003","doi-asserted-by":"crossref","unstructured":"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\u20131001, 2011.10.1007\/s10545-011-9368-721779792","DOI":"10.1007\/s10545-011-9368-7"},{"key":"2026042722154694447_j_enr-2021-0026_ref_004","doi-asserted-by":"crossref","unstructured":"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","DOI":"10.1186\/s12881-017-0409-4"},{"key":"2026042722154694447_j_enr-2021-0026_ref_005","doi-asserted-by":"crossref","unstructured":"Cuisset JM, Sukno S, Trauffler A, Latour P, Dobbelaere D, Michaud L, Vall\u00e9e 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","DOI":"10.1186\/s13256-016-1038-9"},{"key":"2026042722154694447_j_enr-2021-0026_ref_006","doi-asserted-by":"crossref","unstructured":"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-\u03baB signaling pathway after spinal cord injury in rats. Am J Transl Res 11, 6544\u20136552, 2019.10.1155\/2019\/6493081693077031915512","DOI":"10.1155\/2019\/6493081"},{"key":"2026042722154694447_j_enr-2021-0026_ref_007","doi-asserted-by":"crossref","unstructured":"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\u20133017, 2014.10.3390\/nu6083000414529125079853","DOI":"10.3390\/nu6083000"},{"key":"2026042722154694447_j_enr-2021-0026_ref_008","doi-asserted-by":"crossref","unstructured":"Martinez AP, de Azevedo GR. The Bristol Stool Form Scale: its translation to Portuguese, cultural adaptation and validation. Rev Lat Am Enfermagem 20, 583\u2013589, 2012.10.1590\/S0104-1169201200030002122991122","DOI":"10.1590\/S0104-11692012000300021"},{"key":"2026042722154694447_j_enr-2021-0026_ref_009","doi-asserted-by":"crossref","unstructured":"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","DOI":"10.1038\/s41598-018-32573-1"},{"key":"2026042722154694447_j_enr-2021-0026_ref_010","doi-asserted-by":"crossref","unstructured":"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","DOI":"10.1186\/s13023-015-0297-7"},{"key":"2026042722154694447_j_enr-2021-0026_ref_011","doi-asserted-by":"crossref","unstructured":"Saad SMI. Probiotics and prebiotics: The state of the art. Rev Bras Cienc Farm 42, 1\u201316, 2006.10.1590\/S1516-93322006000100002","DOI":"10.1590\/S1516-93322006000100002"},{"key":"2026042722154694447_j_enr-2021-0026_ref_012","doi-asserted-by":"crossref","unstructured":"Shayman JA, Larsen SD. The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases. J Lipid Res 55, 1215\u20131225, 2014.10.1194\/jlr.R047167407608024534703","DOI":"10.1194\/jlr.R047167"},{"key":"2026042722154694447_j_enr-2021-0026_ref_013","doi-asserted-by":"crossref","unstructured":"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","DOI":"10.1590\/0102-672020180001e1400"}],"container-title":["Endocrine Regulations"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/enr-2021-0026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T03:38:41Z","timestamp":1777347521000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/enr-2021-0026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,1]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,12,7]]},"published-print":{"date-parts":[[2021,10,1]]}},"alternative-id":["10.2478\/enr-2021-0026"],"URL":"https:\/\/doi.org\/10.2478\/enr-2021-0026","relation":{},"ISSN":["1336-0329"],"issn-type":[{"value":"1336-0329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,1]]}}}