{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T21:25:04Z","timestamp":1775597104057,"version":"3.50.1"},"publisher-location":"Berlin, Heidelberg","reference-count":26,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662498323","type":"print"},{"value":"9783662498330","type":"electronic"}],"license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"DOI":"10.1007\/8904_2015_485","type":"book-chapter","created":{"date-parts":[[2015,8,24]],"date-time":"2015-08-24T03:58:18Z","timestamp":1440388698000},"page":"61-68","source":"Crossref","is-referenced-by-count":3,"title":["Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity"],"prefix":"10.1007","author":[{"given":"A.","family":"Ahmed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Rudser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kunin-Batson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Delaney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Whitley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,8,25]]},"reference":[{"key":"485_CR1","doi-asserted-by":"crossref","unstructured":"Ahmed A, Whitley CB, Cooksley R et al (2014a) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111(2):123\u2013127","DOI":"10.1016\/j.ymgme.2013.11.014"},{"issue":"2","key":"485_CR2","doi-asserted-by":"crossref","first-page":"S17","DOI":"10.1016\/j.ymgme.2013.11.014","volume":"111","author":"A Ahmed","year":"2014","unstructured":"Ahmed A, Kunin-Batson A, Redtree E, Whitley C, Shapiro E (2014b) MPS (mucopolysaccharidosis) specific physical symptom score \u2013 development, reliability and validity. Mol Genet Metab 111(2):S17\u2013S18","journal-title":"Mol Genet Metab"},{"key":"485_CR3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s004390100606","volume":"109","author":"CE Beesley","year":"2001","unstructured":"Beesley CE, Meaney CA, Greenland G et al (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109:503\u2013511","journal-title":"Hum Genet"},{"issue":"6","key":"485_CR4","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/humu.21479","volume":"32","author":"F Bertola","year":"2011","unstructured":"Bertola F, Filocamo M, Casati G et al (2011) IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel \u03b1-L-iduronidase (IDUA) alleles. Hum Mutat 32(6):189\u2013210","journal-title":"Hum Mutat"},{"key":"485_CR5","unstructured":"Clarke LA, Heppner J (2002) Mucopolysaccharidosis Type I, (Updated 2011 Jul 21). In: Pagon RA, Adam MP, Bird TD et al (eds) Gene Reviews\u2122 [Internet]. University of Washington, Seattle. 1993\u20132013. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1162\/"},{"key":"485_CR6","unstructured":"R Core Team (2014) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna. http:\/\/www.R-project.org\/"},{"key":"485_CR7","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1007\/s00431-011-1644-x","volume":"171","author":"K D\u2019Aco","year":"2012","unstructured":"D\u2019Aco K, Underhill L, Rangachari L et al (2012) Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 171:911\u2013919","journal-title":"Eur J Pediatr"},{"key":"485_CR8","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780198524847.001.0001","volume-title":"Analysis of longitudinal data","author":"P Diggle","year":"2002","unstructured":"Diggle P, Heagerty P, Liang K, Zeger S (2002) Analysis of longitudinal data. Oxford University Press, New York"},{"key":"485_CR9","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1017\/S0012162206001216","volume":"48","author":"SM Haley","year":"2006","unstructured":"Haley SM, Fragala-Pinkham MA, Dumas HM, Ni P, Skrinar AM, Cox GF (2006) A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol 48:576\u2013581","journal-title":"Dev Med Child Neurol"},{"issue":"5","key":"485_CR10","first-page":"381","volume":"7","author":"JJ Hopwood","year":"1990","unstructured":"Hopwood JJ, Morris CP (1990) The mucopolysaccharidosis: diagnosis, molecular genetics and treatment. Mol Biol Med 7(5):381\u2013404","journal-title":"Mol Biol Med"},{"key":"485_CR11","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","volume":"344","author":"ED Kakkis","year":"2001","unstructured":"Kakkis ED, Muenzer J, Tiller GE et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344:182\u2013188","journal-title":"N Engl J Med"},{"key":"485_CR12","volume-title":"The CHQ user\u2019s manual","author":"JM Landgraf","year":"1996","unstructured":"Landgraf JM, Abetz L, Ware JE (1996) The CHQ user\u2019s manual, 1st edn. The Health Institute, New England Medical Center, Boston","edition":"1"},{"key":"485_CR13","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","volume":"281","author":"PJ Meikle","year":"1999","unstructured":"Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249\u2013254","journal-title":"JAMA"},{"key":"485_CR14","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1750-1172-3-24","volume":"3","author":"D Moore","year":"2008","unstructured":"Moore D, Connock MJ, Wraith JE, Lavery C (2008) The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis 3:24","journal-title":"Orphanet J Rare Dis"},{"key":"485_CR15","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1542\/peds.2008-0416","volume":"123","author":"J Muenzer","year":"2009","unstructured":"Muenzer J, Wraith JE, Clarke LA (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123:19\u201329","journal-title":"Pediatrics"},{"key":"485_CR16","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"EF Neufeld","year":"2001","unstructured":"Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D, Childs R, Kinzler K (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3421\u20133452"},{"key":"485_CR17","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ymgme.2007.01.011","volume":"91","author":"GM Pastores","year":"2007","unstructured":"Pastores GM, Arn P, Beck M et al (2007) The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab 91:37\u201347","journal-title":"Mol Genet Metab"},{"key":"485_CR18","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1182\/blood.V87.11.4894.bloodjournal87114894","volume":"87","author":"C Peters","year":"1996","unstructured":"Peters C, Balthazor M, Shapiro E et al (1996) Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87:4894\u20134902","journal-title":"Blood"},{"key":"485_CR19","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","volume":"91","author":"C Peters","year":"1998","unstructured":"Peters C, Shapiro E, Anderson J et al (1998) Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 91:2601\u20132608","journal-title":"Blood"},{"key":"485_CR20","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/humu.1380060403","volume":"6","author":"HS Scott","year":"1995","unstructured":"Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ (1995) Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 6:288\u2013302","journal-title":"Hum Mutat"},{"key":"485_CR21","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/sj.bmt.1704105","volume":"31","author":"G Souillet","year":"2003","unstructured":"Souillet G, GuVon N, Maire I et al (2003) Outcome of 27 patients with Hurler\u2019s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31:1105\u20131117","journal-title":"Bone Marrow Transplant"},{"key":"485_CR22","doi-asserted-by":"crossref","unstructured":"Sparrow SS, Cicchetti DV, Balla DA (2005) Vineland Adaptive Behavior Scales. 2nd Edition. Psychological Corporation, San Antonio","DOI":"10.1037\/t15164-000"},{"key":"485_CR23","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa032613","volume":"350","author":"SL Staba","year":"2004","unstructured":"Staba SL, Escolar ML, Poe M et al (2004) Cord-blood transplants from unrelated donors in patients with Hurler\u2019s syndrome. N Engl J Med 350:1960\u20131969","journal-title":"N Engl J Med"},{"key":"485_CR24","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1097\/01.GIM.0000078027.83236.49","volume":"5","author":"NJ Terlato","year":"2003","unstructured":"Terlato NJ, Cox GF (2003) Can mucopolysaccharidosis type I disease severity be predicted based on a patient\u2019s genotype? A comprehensive review of the literature. Genet Med 5:286\u2013294","journal-title":"Genet Med"},{"key":"485_CR25","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.jpeds.2004.01.046","volume":"144","author":"JE Wraith","year":"2004","unstructured":"Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144:581\u2013588","journal-title":"J Pediatr"},{"issue":"2","key":"485_CR26","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ymgme.2014.12.299","volume":"114","author":"B Yund","year":"2015","unstructured":"Yund B, Rudser K, Ahmed A et al (2015) Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab 114(2):170\u2013177","journal-title":"Mol Genet Metab"}],"container-title":["JIMD Reports","JIMD Reports, Volume 26"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2015_485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T18:05:55Z","timestamp":1718042755000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2015_485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"ISBN":["9783662498323","9783662498330"],"references-count":26,"URL":"https:\/\/doi.org\/10.1007\/8904_2015_485","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}