{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T15:15:15Z","timestamp":1780672515976,"version":"3.54.1"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,31]],"date-time":"2013-10-31T00:00:00Z","timestamp":1383177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other mucopolysaccharidoses, it has not been sufficiently addressed in MPS III. The aim of this study was to investigate growth data of a large Dutch MPS III cohort in order to construct growth charts for MPS III patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Height, weight, head circumference (HC), and body mass index (BMI) data from 118 MPS III patients were used to construct reference curves, using the lambda, mu, sigma (LMS) method. Genotype\u2010group comparisons for height standard deviation scores (SDS) were performed by Kruskal\u2013Wallis analysis for different age groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Birth weight and length were within normal ranges for gestational age and showed a significantly stunted growth from age 6 years onward. Mean final heights were 169.7 cm (\u22122.0 SDS) and 165.4 cm (\u22120.84 SDS) for adult male and female, patients, respectively. Phenotypic severity, as assessed by genotyping, correlated with growth pattern and final height. In addition, mean BMI and HC SDS were significantly higher when compared with Dutch standards for both boys and girls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Growth in MPS III is stunted mainly in patients with the severe phenotype. We provide disease\u2010specific growth references that can be used for clinical management of MPS III patients and may be of value for future treatment studies.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-013-9658-3","type":"journal-article","created":{"date-parts":[[2013,10,30]],"date-time":"2013-10-30T13:39:02Z","timestamp":1383140342000},"page":"447-454","source":"Crossref","is-referenced-by-count":21,"title":["Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)"],"prefix":"10.1002","volume":"37","author":[{"given":"J.","family":"de Ruijter","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Broere","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. F.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Section of Metabolic Diseases, Department of Paediatrics VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Paediatrics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. E.","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Laboratory of Genetic\u2010Metabolic Diseases Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute for Genetic and Metabolic Disease Radboud University Nijmegen Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Visser","sequence":"additional","affiliation":[{"name":"Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. A.","family":"Wijburg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"},{"name":"Department of Pediatrics, Division of Metabolic Diseases (H7\u2010270) Academic Medical Centre (AMC) Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2008.095315"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0093-y"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01995850"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker395"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.3.403"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.4780111005"},{"key":"e_1_2_7_9_1","first-page":"12","article-title":"Primaire en secundaire preventie van congenitale heupluxatie","volume":"17","author":"Jonge GA","year":"1986","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_7_10_1","first-page":"1","volume-title":"Growth diagrams for ages 1\u201325 years in The Netherlands","author":"Wijn J","year":"1960"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.004"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200003000-00006"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200700176"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572012000600006"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.001"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.12.010"},{"key":"e_1_2_7_18_1","first-page":"349","article-title":"Intrauterine growth and intrauterine growth curves","volume":"69","author":"Kloosterman GJ","year":"1969","journal-title":"Ned Tijdschr Verloskd Gynaecol"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-789X.2010.00744.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32281"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker397"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34053"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20037"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-8-8"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.3233\/PRM-2010-0106"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.20"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_7_28_1","first-page":"330","article-title":"The secular trend in The Netherlands. The third nation\u2010wide growth study","volume":"81","author":"Roede MJ","year":"1990","journal-title":"Arztl Jugendkd"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2010.02060.x"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.011"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bioeng.8.061505.095745"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027608"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2012.189"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2008.070564"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30579"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000429"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.008"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9199-y"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22092"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01821.x"},{"key":"e_1_2_7_42_1","first-page":"1","volume-title":"Growth diagrams 1965 Netherlands","author":"Wieringen J","year":"1971"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.2009.01521.x"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200242"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.9.1573"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker393"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2004.01.003"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31817701e6"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1189"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1983.tb13794.x"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1086\/301682"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.12.6101"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-013-9658-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:21:49Z","timestamp":1694755309000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-013-9658-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,31]]},"references-count":51,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1007\/s10545-013-9658-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-013-9658-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,31]]}}}