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Canadian Institutes of Health Research. 2018; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.cihr-irsc.gc.ca\/e\/49695.html\" xlink:type=\"simple\">http:\/\/www.cihr-irsc.gc.ca\/e\/49695.html<\/ext-link>."},{"key":"ref2","unstructured":"Europian Organization for Rare Diseases. Rare Diseases: Understanding This Public Health Priority. 2005; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.eurordis.org\/IMG\/pdf\/princeps_document-EN.pdf\" xlink:type=\"simple\">https:\/\/www.eurordis.org\/IMG\/pdf\/princeps_document-EN.pdf<\/ext-link>."},{"key":"ref3","unstructured":"U.S. Department of Health and Human Services. Orphan Drug Act. 2018; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.fda.gov\/RegulatoryInformation\/LawsEnforcedbyFDA\/SignificantAmendmentstotheFDCAct\/OrphanDrugAct\/default.htm\" xlink:type=\"simple\">https:\/\/www.fda.gov\/RegulatoryInformation\/LawsEnforcedbyFDA\/SignificantAmendmentstotheFDCAct\/OrphanDrugAct\/default.htm<\/ext-link>"},{"key":"ref4","unstructured":"Canada\u2019s Rare Disease Strategy. The Canadian Organization for Rare Disorders. 2017; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.raredisorders.ca\/\/content\/uploads\/CORD_Canada_RD_Strategy_22May15.pdf\" xlink:type=\"simple\">http:\/\/www.raredisorders.ca\/\/content\/uploads\/CORD_Canada_RD_Strategy_22May15.pdf<\/ext-link>"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1073\/pnas.70.7.2134","article-title":"The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase","volume":"70","author":"G Bach","year":"1973","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref6","unstructured":"A Guide to Understanding Mucopolysaccharidosis (MPS) II. The Canadian Society for Mucopolysaccharide and Related Diseases Inc. 2017; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.mpssociety.ca\/wp-content\/uploads\/2017\/04\/MPSIIBookletEnglish.pdf\" xlink:type=\"simple\">https:\/\/www.mpssociety.ca\/wp-content\/uploads\/2017\/04\/MPSIIBookletEnglish.pdf<\/ext-link>"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1651-2227.2007.00212.x","article-title":"A clinical study of 77 patients with mucopolysaccharidosis type II","volume":"96","author":"I Schwartz","year":"2007","journal-title":"Acta P\u00e6dactrica"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1542\/peds.2007-1350","article-title":"Recognition and diagnosis of mucopolysaccharidosis II (Hunter Syndrome)","volume":"121","author":"R Martin","year":"2008","journal-title":"Pediatrics"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/s10897-014-9791-7","article-title":"Health-Related Quality of Life in Patients with MPS II","volume":"24","author":"M Needham","year":"2015","journal-title":"J Genet Counsel"},{"key":"ref10","unstructured":"Mucopolysaccharidosis type II. Genetics Home Reference. 2016; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/6675\/mucopolysaccharidosis-type-ii\" xlink:type=\"simple\">https:\/\/rarediseases.info.nih.gov\/diseases\/6675\/mucopolysaccharidosis-type-ii<\/ext-link>"},{"key":"ref11","unstructured":"Zhang H. The Optimality of Naive Bayes. Proceedings of the Seventeenth International Florida Artificial Intelligence Research Society Conference. 2004; Miami Beach, Florida, USA."},{"key":"ref12","unstructured":"Ehsani-Moghaddam B, Queenan JA, MacKenzie J, Birtwhistle RV. Zero-inflated Poisson regression and Factor analysis of Mucopolysacharidosis type II using Electronic medical records from the Canadian Primary Care Sentinel Surveillance Network. 2018; submitted for publication."},{"key":"ref13","unstructured":"Menec V, Black C, Roos NP, Bogdanovic B, Reid R. Defining practice populations for primary care: Methods and issues. Manitoba Centre for Health Policy and Evaluation. 2000; <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/mchp-appserv.cpe.umanitoba.ca\/reference\/roster.pdf\" xlink:type=\"simple\">http:\/\/mchp-appserv.cpe.umanitoba.ca\/reference\/roster.pdf<\/ext-link>"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1472-6947-12-8","article-title":"Predicting sample size required for classification performance","volume":"12","author":"RL Figueroa","year":"2012","journal-title":"BMC Med. Inform. Decis. Mak"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.aca.2012.11.007","article-title":"Sample size planning for classification models","volume":"760","author":"C Beleites","year":"2013","journal-title":"Analytica Chimica Acta"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"338","DOI":"10.2522\/ptj.20090163","article-title":"Balance impairment as a risk factor for falls in community-dwelling older adults who are high functioning: a prospective study","volume":"90","author":"SW Muir","year":"2010","journal-title":"Phys Ther"},{"issue":"5","key":"ref17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.18637\/jss.v028.i05","article-title":"Building predictive models in R using the caret package","volume":"28","author":"M Kuhn","year":"2008","journal-title":"Journal of Statistical Software"},{"key":"ref18","first-page":"491","article-title":"Applied Predictive Modeling","volume":"19","author":"M. Kuhn","year":"2016"},{"key":"ref19","first-page":"175","article-title":"An Introduction to Statistical Learning: with Applications in R","volume":"4","author":"G James","year":"2013"},{"key":"ref20","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-4899-4541-9","article-title":"An introduction to the bootstrap","author":"B Efron","year":"1993"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"159","DOI":"10.2307\/2529310","article-title":"The measurement of observer agreement for categorical data","volume":"33","author":"JR Landis","year":"1997","journal-title":"Biometrics"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/BF00994110","article-title":"A Bayesian Method for the Induction of Probabilistic Networks from Data","volume":"9","author":"GF Cooper","year":"1992","journal-title":"Machine Learning. Kluwer, Boston"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1023\/A:1007465528199","article-title":"Bayesian Network Classifiers","volume":"29","author":"N Friedman","year":"1997","journal-title":"Machine Learning. Kluwer, Boston"},{"key":"ref24","doi-asserted-by":"crossref","unstructured":"Cheng J, Greiner R. Learning Bayesian Belief Network Classifiers: Algorithms and System. Proc. 14th Canadian Conference on Artificial Intelligence; 2001.","DOI":"10.1007\/3-540-45153-6_14"},{"key":"ref25","article-title":"Research and Development in Intelligent Systems XXV. SGAI 2008","author":"MG Madden","year":"2009"},{"key":"ref26","first-page":"170","article-title":"Decision support in heart disease prediction system using naive Bayes","volume":"2","author":"G Subbalakshmi","year":"2011","journal-title":"Indian J Comput Sci Eng"},{"key":"ref27","unstructured":"Molnar C. Interpretable Machine Learning. Retrieved from <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/christophm.github.io\/interpretable-ml-book\/\" xlink:type=\"simple\">https:\/\/christophm.github.io\/interpretable-ml-book\/<\/ext-link>. 2018."},{"key":"ref28","unstructured":"Miller T. Explanation in Artificial Intelligence: Insights from the Social Sciences. arXiv Preprint arXiv: 1706.07269. 2017."},{"key":"ref29","doi-asserted-by":"crossref","unstructured":"Ribeiro MT, Singh S. Guestrin C. &quot;Why Should I Trust You?&quot;: Explaining the Predictions of Any Classifier. In: ACM SIGKDD International Conference on Knowledge Discovery and Data Mining (KDD); 2016.","DOI":"10.1145\/2939672.2939778"},{"key":"ref30","doi-asserted-by":"crossref","unstructured":"Lowd D, Domingos P. Naive Bayes Models for Probability Estimation. Proceedings of the 22nd International Conferenceon Machine Learning, August 7\u201311, Bonn, Germany, ACM; 2005. 529\u2013536.","DOI":"10.1145\/1102351.1102418"},{"issue":"1","key":"ref31","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1023\/A:1009730122752","article-title":"Bayesian networks for data mining","volume":"1","author":"D Heckerman","year":"1997","journal-title":"Data mining and knowledge discovery"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/BF00994016","article-title":"Learning Bayesian networks: the combination of knowledge and statistical data","volume":"20","author":"D Heckerman","year":"1995","journal-title":"Machine Learning"},{"issue":"2\u20133","key":"ref33","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/0004-3702(90)90060-D","article-title":"The computational complexity of probabilistic inference using Bayesian belief networks","volume":"42","author":"GF Cooper","year":"1990","journal-title":"Artificial Intelligence"},{"key":"ref34","article-title":"Data Mining and Knowledge Discovery","author":"O Maimon","year":"2005"},{"key":"ref35","unstructured":"Mohan V. Decision Trees: A comparison of various algorithms for building Decision Trees. <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/cs.jhu.edu\/~vmohan3\/document\/ai_dt.pdf\" xlink:type=\"simple\">http:\/\/cs.jhu.edu\/~vmohan3\/document\/ai_dt.pdf<\/ext-link>."},{"key":"ref36","unstructured":"Stern MK, Beck JE, Woolf BP. Na\u00efve Bayes Classifiers for User Modeling. Center for Knowledge Communication, Computer Science Department, University of Massachusetts. 1999."},{"key":"ref37","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ajhg.2015.05.020","article-title":"The human phenotype ontology: semantic unification of common and rare disease","volume":"97","author":"T Groza","year":"2015","journal-title":"The American Journal of Human Genetics"},{"key":"ref38","unstructured":"Shen F, Liu S, Wang Y, Wang Y, Wang L, Afzal N, Liu H. Leveraging collaborative filtering to accelerate rare disease diagnosis. AMIA Annual Symposium Proceedings. 2017; 1554\u20131563."},{"key":"ref39","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg1714s79","article-title":"Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II","volume":"79","author":"BA Johnson","year":"2013","journal-title":"Curr Protoc Hum Genet"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0209018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T16:38:21Z","timestamp":1589042301000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0209018"}},"subtitle":[],"editor":[{"given":"Zhengxing","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,12,19]]},"references-count":39,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,12,19]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0209018","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,19]]}}}