{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:18:00Z","timestamp":1707524280183},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,25]]},"DOI":"10.7759\/cureus.14100","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T10:44:22Z","timestamp":1616669062000},"source":"Crossref","is-referenced-by-count":0,"title":["Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report"],"prefix":"10.7759","author":[{"given":"Francisca","family":"Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Pestana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Dur\u00e3es","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuno","family":"Guimar\u00e3es Rosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil","family":"Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain DP","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010, 5:30. 10.1186\/1750-1172-5-30","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.medcli.2016.09.047","article-title":"Diagnosis and treatment of Fabry disease","volume":"148","author":"Ortiz A","year":"2017","unstructured":"Ortiz A, Sanchez-Ni\u00f1o MD. Diagnosis and treatment of Fabry disease. Med Clin (Barc). 2017, 148:132-138. 10.1016\/j.medcli.2016.09.047","journal-title":"Med Clin (Barc)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \"renal variant\" phenotype","volume":"64","author":"Nakao S","year":"2003","unstructured":"Nakao S, Kodama C, Takenaka T, et al.. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \"renal variant\" phenotype. Kidney Int. 2003, 64:801-807. 10.1046\/j.1523-1755.2003.00160.x","journal-title":"Kidney Int"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000237866.70357.c6","article-title":"Fabry disease: guidelines for the evaluation and management of multi-organ system involvement","volume":"8","author":"Eng CM","year":"2006","unstructured":"Eng CM, Germain DP, Banikazemi M, et al.. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006, 8:539-548. 10.1097\/01.gim.0000237866.70357.c6","journal-title":"Genet Med"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1023\/a:1012423924648","article-title":"Renal pathological changes in Fabry disease","volume":"24","author":"Sessa A","year":"2001","unstructured":"Sessa A, Meroni M, Battini G, et al.. Renal pathological changes in Fabry disease. J Inherit Metab Dis. 2001, 24:66-70. 10.1023\/a:1012423924648","journal-title":"J Inherit Metab Dis"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2004.01300.x","article-title":"The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy","volume":"255","author":"Hauser AC","year":"2004","unstructured":"Hauser AC, Lorenz M, Sunder-Plassmann G. The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy. J Intern Med. 2004, 255:629-636. 10.1111\/j.1365-2796.2004.01300.x","journal-title":"J Intern Med"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry","volume":"93","author":"Wilcox WR","year":"2008","unstructured":"Wilcox WR, Oliveira JP, Hopkin RJ, et al.. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008, 93:112-128. 10.1016\/j.ymgme.2007.09.013","journal-title":"Mol Genet Metab"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1080\/08035320600618809","article-title":"Disease manifestations and X inactivation in heterozygous females with Fabry disease","volume":"95","author":"Maier EM","year":"2006","unstructured":"Maier EM, Osterrieder S, Whybra C, et al.. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl. 2006, 95:30-38. 10.1080\/08035320600618809","journal-title":"Acta Paediatr Suppl"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat L","year":"2007","unstructured":"Monserrat L, Gimeno-Blanes JR, Mar\u00edn F, et al.. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007, 50:2399-2403. 10.1016\/j.jacc.2007.06.062","journal-title":"J Am Coll Cardiol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90384-3","article-title":"Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease","volume":"112","author":"Mayes JS","year":"1981","unstructured":"Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta. 1981, 112:247-251. 10.1016\/0009-8981(81)90384-3","journal-title":"Clin Chim Acta"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz A","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ, et al.. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018, 123:416-427. 10.1016\/j.ymgme.2018.02.014","journal-title":"Mol Genet Metab"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1590\/s1415-47572012000600009","article-title":"Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis","volume":"35","author":"Alegra T","year":"2012","unstructured":"Alegra T, Vairo F, de Souza MV, Krug BC, Schwartz IV. Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis. Genet Mol Biol. 2012, 35:947-954. 10.1590\/s1415-47572012000600009","journal-title":"Genet Mol Biol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0253-6","article-title":"Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document","volume":"10","author":"Biegstraaten M","year":"2015","unstructured":"Biegstraaten M, Arngr\u00edmsson R, Barbey F, et al.. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015, 10:36. 10.1186\/s13023-015-0253-6","journal-title":"Orphanet J Rare Dis"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations","volume":"2","author":"Shabbeer J","year":"2006","unstructured":"Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics. 2006, 2:297-309. 10.1186\/1479-7364-2-5-297","journal-title":"Hum Genomics"},{"key":"ref15","article-title":"High-Performance Thin-Layer Chromatography Detection of Globotriaosylceramide in Urine Samples: Improvement of the Method and Sampling","author":"Assun\u00e7\u00e3o MS","year":"2012","unstructured":"Assun\u00e7\u00e3o MS. High-Performance Thin-Layer Chromatography Detection of Globotriaosylceramide in Urine Samples: Improvement of the Method and Sampling. University of Minho, Braga, Portugal; 2012. http:\/\/repositorium.sdum.uminho.pt\/handle\/1822\/23027"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161330","article-title":"Genotype: a crucial but not unique factor affecting the clinical phenotypes in Fabry disease","volume":"11","author":"Pan X","year":"2016","unstructured":"Pan X, Ouyang Y, Wang Z, et al.. Genotype: a crucial but not unique factor affecting the clinical phenotypes in Fabry disease. PLoS One. 2016, 11:e0161330. 10.1371\/journal.pone.0161330","journal-title":"PLoS One"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.07.002","article-title":"Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease","volume":"123","author":"Nowak A","year":"2018","unstructured":"Nowak A, Mechtler TP, Hornemann T, Gawinecka J, Theswet E, Hilz MJ, Kasper DC. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab. 2018, 123:148-153. 10.1016\/j.ymgme.2017.07.002","journal-title":"Mol Genet Metab"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-017-2950-8","article-title":"Newborn screening for Fabry disease in the north-west of Spain","volume":"176","author":"Colon C","year":"2017","unstructured":"Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fern\u00e1ndez-Lorenzo JR. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr. 2017, 176:1075-1081. 10.1007\/s00431-017-2950-8","journal-title":"Eur J Pediatr"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.9734\/BJMMR\/2017\/32156","article-title":"Screening for Fabry disease among dialysis patients in Brazil: findings from the first 18 months of a nationwide study article information","volume":"21","author":"Coutinho M","year":"2017","unstructured":"Coutinho M, Neto OM, Betta J, Santos TM, Lopez JE, Baptista LR, Ribeiro M. Screening for Fabry disease among dialysis patients in Brazil: findings from the first 18 months of a nationwide study article information. Br J Med Med Res. 2017, 21:1-16. 10.9734\/BJMMR\/2017\/32156","journal-title":"Br J Med Med Res"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.07.012","article-title":"Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype","volume":"129","author":"Azevedo O","year":"2020","unstructured":"Azevedo O, Gal A, Faria R, et al.. Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype. Mol Genet Metab. 2020, 129:150-160. 10.1016\/j.ymgme.2019.07.012","journal-title":"Mol Genet Metab"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/53608-fabry-disease-pm290i-mutation-is-related-to-organ-involvement-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:26:44Z","timestamp":1707506804000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/53608-fabry-disease-pm290i-mutation-is-related-to-organ-involvement-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,25]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.14100","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3,25]]}}}