{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:42:47Z","timestamp":1762004567809},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,8]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI<\/jats:styled-content> (MPS VI<\/jats:styled-content>) in R<\/jats:styled-content>ussia, K<\/jats:styled-content>azakhstan, and Central and Eastern E<\/jats:styled-content>urope.<\/jats:p><\/jats:sec>Methods<\/jats:title>Patients (n<\/jats:italic> = 49) were identified by retrieving the data from eight international centers for MPS VI<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W<\/jats:styled-content> mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100\u2009000 live births in P<\/jats:styled-content>oland and L<\/jats:styled-content>ithuania, respectively.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The observed high p.R152W<\/jats:styled-content> carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W<\/jats:styled-content> may be of S<\/jats:styled-content>lavic, not L<\/jats:styled-content>ithuanian origin. Resettlement of the P<\/jats:styled-content>olish population after World War II<\/jats:styled-content> resulted in dilution of the prevalence of carriers in P<\/jats:styled-content>oland and a very low MPS VI<\/jats:styled-content> incidence.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12281","type":"journal-article","created":{"date-parts":[[2013,12,27]],"date-time":"2013-12-27T04:57:04Z","timestamp":1388120224000},"page":"520-525","source":"Crossref","is-referenced-by-count":20,"title":["Mucopolysaccharidosis type VI<\/scp> in R<\/scp>ussia, K<\/scp>azakhstan, and Central and Eastern E<\/scp>urope"],"prefix":"10.1111","volume":"56","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland"},{"name":"Department of Genetics University of Gda\u0144sk Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Diseases Research Center for Medical Genetics Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreta","family":"Cimbalistiene","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Santariskiu Klinikos Vilnius University Hospital Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Gusina","sequence":"additional","affiliation":[{"name":"Genetics Unit National Medical Center \u201cMother and Child\u201d Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Malinova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescence Medicine First Faculty of Medicine General University Hospital Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"R\u00f3\u017cd\u017cy\u0144ska\u2010\u015awi\u0105tkowska","sequence":"additional","affiliation":[{"name":"Anthropology Laboratory Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Golda","sequence":"additional","affiliation":[{"name":"Department of Cardiology Gliwice General Hospital Gliwice Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kulpanovich","sequence":"additional","affiliation":[{"name":"Genetics Unit National Medical Center \u201cMother and Child\u201d Minsk Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulnara","family":"Kaldenovna Abdilova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Research Center of Pediatrics and Pediatric Surgery Almaty Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Voskoboeva","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Diseases Research Center for Medical Genetics Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"3421","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0112-z"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00965.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-5"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.06.097"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.05.115"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00288275"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-55-659-805"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060405"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.003"},{"key":"e_1_2_6_12_1","unstructured":"GUS Central Statistical Office.Births in the period1970\u20132009. [Cited 19 July 2013.] Available from URL:http:\/\/www.stat.gov.pl\/gus\/5840_646_PLK_HTML.htm"},{"key":"e_1_2_6_13_1","unstructured":"National Statistical Committee of the Republic of Belarus.Population of the Republic of Belarus. [Cited 19 July 2013.] Available from URL:http:\/\/www.belstat.gov.by\/homep\/en\/main.html"},{"key":"e_1_2_6_14_1","unstructured":"Main demographic indicators.Births deaths and natural increase. [Cited 19 July 2013.] Available from URL:http:\/\/pub.stat.ee\/px\u2010web.2001\/I_Databas\/Population\/01Population_indicators_and_composition\/02Main_demographic_indicators\/02Main_demographic_indicators.asp"},{"key":"e_1_2_6_15_1","unstructured":"LS Statistics Lithuania.Number of population live births deaths by month. [Cited 19 July 2013.] Available from URL:http:\/\/db1.stat.gov.lt\/statbank\/SelectTable\/omrade0.asp?SubjectCode=S3&PLanguage=1&ShowNews=OFF"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.08.024"},{"key":"e_1_2_6_17_1","first-page":"837","article-title":"[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]","volume":"36","author":"Voskoboeva E","year":"2000","journal-title":"Genetika"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-2184"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00277.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02522.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30579"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0188-4409(00)00104-1"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9474-1"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20314"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12281","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T11:22:13Z","timestamp":1695986533000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/ped.12281"],"URL":"https:\/\/doi.org\/10.1111\/ped.12281","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4]]}}}