{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:16:39Z","timestamp":1792030599345,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,17]],"date-time":"2017-03-17T00:00:00Z","timestamp":1489708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007397","name":"Charles University","doi-asserted-by":"publisher","award":["PRVOUK P24\/LF1\/3"],"award-info":[{"award-number":["PRVOUK P24\/LF1\/3"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Charles University","doi-asserted-by":"publisher","award":["UNCE 204011"],"award-info":[{"award-number":["UNCE 204011"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Charles University","doi-asserted-by":"publisher","award":["GAUK 580716"],"award-info":[{"award-number":["GAUK 580716"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Mucopolysaccharidosis type<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>(Hunter syndrome,<jats:styled-content style=\"fixed-case\">MPS II<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>309900) is an X\u2010linked lysosomal storage disorder caused by deficiency of iduronate\u20102\u2010sulfatase (<jats:styled-content style=\"fixed-case\">IDS<\/jats:styled-content>). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M\/1 F) were included in the study (median age 11.0 years, range 1.2\u201343 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (<jats:styled-content style=\"fixed-case\">GAGs<\/jats:styled-content>) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions\/insertions. Large deletions\/rearrangements and all but one small deletion\/insertion led to a severe phenotype. This genotype\u2013phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of<jats:styled-content style=\"fixed-case\">MPS II<\/jats:styled-content>patients.<\/jats:p>","DOI":"10.1111\/cge.12927","type":"journal-article","created":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T15:46:46Z","timestamp":1480002406000},"page":"787-796","source":"Crossref","is-referenced-by-count":33,"title":["Genotype\u2013phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II<\/scp>"],"prefix":"10.1111","volume":"91","author":[{"given":"L.","family":"Dvorakova","sequence":"first","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Vlaskova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sarajlija","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Clinical Genetics Mother and Child Health Care Institute of Serbia Belgrade Serbia"},{"name":"School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. P.","family":"Ramadza","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Poupetova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Hruba","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Hlavata","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics Comenius University Medical School in Bratislava University Children's Hospital Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Bzduch","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Comenius University Medical School in Bratislava University Children's Hospital Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Peskova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Storkanova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Kecman","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Clinical Genetics Mother and Child Health Care Institute of Serbia Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Djordjevic","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Clinical Genetics Mother and Child Health Care Institute of Serbia Belgrade Serbia"},{"name":"School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Baric","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center and University of Zagreb, School of Medicine Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Fumic","sequence":"additional","affiliation":[{"name":"Department of Laboratory Diagnostics University Hospital Centre Zagreb and School of Medicine Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Barisic","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Children's Hospital Zagreb, School of Medicine Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Reboun","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kulhanek","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zeman","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine 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