{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:24:01Z","timestamp":1793823841736,"version":"4.6.1"},"reference-count":127,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Funding to support development of these consensus guidelines was provided in part by Global Genes, BioMarin Pharmaceutical Inc, Cure Sanfilippo Foundation and Sanfilippo Children\u2019s Foundation"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an international steering committee composed of clinical experts with extensive experience in managing patients with Sanfilippo syndrome. The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease. This review distills 178 guideline statements into an easily digestible document that provides evidence-based, expert-led recommendations for how to approach common management challenges and appropriate monitoring schedules in the care of patients with Sanfilippo syndrome.<\/jats:p>","DOI":"10.1186\/s13023-022-02484-6","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T19:07:56Z","timestamp":1666897676000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Sanfilippo syndrome: consensus guidelines for clinical care"],"prefix":"10.1186","volume":"17","author":[{"given":"Nicole","family":"Muschol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Muenzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J. C.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chester B.","family":"Whitley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Donnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Drake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Elvidge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Melton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9377-259X","authenticated-orcid":false,"given":"Cara","family":"O\u2019Neill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MPS III Guideline Development Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,10,27]]},"reference":[{"issue":"3","key":"2484_CR1","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1111\/ped.12636","volume":"57","author":"F Andrade","year":"2015","unstructured":"Andrade F, Aldamiz-Echevarria L, Llarena M, Couce ML. Sanfilippo syndrome: overall review. Pediatr Int. 2015;57(3):331\u20138.","journal-title":"Pediatr Int"},{"issue":"2","key":"2484_CR2","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1007\/s10545-008-0838-5","volume":"31","author":"MJ Valstar","year":"2008","unstructured":"Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008;31(2):240\u201352.","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"2484_CR3","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","volume":"121","author":"SA Khan","year":"2017","unstructured":"Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121(3):227\u201340.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"2484_CR4","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ajmg.a.33779","volume":"155A","author":"B H\u00e9ron","year":"2011","unstructured":"H\u00e9ron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A. 2011;155A(1):58\u201368.","journal-title":"Am J Med Genet A"},{"issue":"1\u20132","key":"2484_CR5","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s004399900075","volume":"105","author":"BJ Poorthuis","year":"1999","unstructured":"Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Human Genet. 1999;105(1\u20132):151\u20136.","journal-title":"Human Genet"},{"issue":"1","key":"2484_CR6","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1186\/s13023-018-0796-4","volume":"13","author":"T Zelei","year":"2018","unstructured":"Zelei T, Csetneki K, Voko Z, Siffel C. Epidemiology of Sanfilippo syndrome: results of a systematic literature review. Orphanet J Rare Dis. 2018;13(1):53.","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"2484_CR7","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1111\/j.1651-2227.2008.00965.x","volume":"97","author":"G Malm","year":"2008","unstructured":"Malm G, Lund AM, Mansson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008;97(11):1577\u201381.","journal-title":"Acta Paediatr"},{"issue":"1","key":"2484_CR8","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1136\/adc.73.1.77","volume":"73","author":"MC Bax","year":"1995","unstructured":"Bax MC, Colville GA. Behaviour in mucopolysaccharide disorders. Arch Dis Child. 1995;73(1):77\u201381.","journal-title":"Arch Dis Child"},{"key":"2484_CR9","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.ymgme.2017.09.010","volume":"122S","author":"ML Escolar","year":"2017","unstructured":"Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H. Practical management of behavioral problems in mucopolysaccharidoses disorders. Mol Genet Metab. 2017;122S:35\u201340.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"2484_CR10","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1034\/j.1399-0004.2002.620512.x","volume":"62","author":"J Fraser","year":"2002","unstructured":"Fraser J, Wraith JE, Delatycki MB. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet. 2002;62(5):418\u201321.","journal-title":"Clin Genet"},{"key":"2484_CR11","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1750-1172-6-43","volume":"6","author":"MJ Valstar","year":"2011","unstructured":"Valstar MJ, Marchal JP, Grootenhuis M, Colland V, Wijburg FA. Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J Rare Dis. 2011;6:43.","journal-title":"Orphanet J Rare Dis"},{"key":"2484_CR12","unstructured":"Wagner VF, Northrup H. Mucopolysaccharidosis type III. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. Gene Reviews\u00ae. Seattle (WA) 1993."},{"issue":"5","key":"2484_CR13","first-page":"E1348","volume":"31","author":"MJ Valstar","year":"2010","unstructured":"Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, et al. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat. 2010;31(5):E1348\u201360.","journal-title":"Hum Mutat"},{"issue":"6","key":"2484_CR14","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1007\/s10545-010-9199-y","volume":"33","author":"MJ Valstar","year":"2010","unstructured":"Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, et al. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis. 2010;33(6):759\u201367.","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"2484_CR15","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1002\/ana.22092","volume":"68","author":"MJ Valstar","year":"2010","unstructured":"Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, et al. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype\u2013phenotype correlations. Ann Neurol. 2010;68(6):876\u201387.","journal-title":"Ann Neurol"},{"issue":"5","key":"2484_CR16","doi-asserted-by":"publisher","first-page":"e1255","DOI":"10.1542\/peds.2007-0282","volume":"120","author":"A Meyer","year":"2007","unstructured":"Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007;120(5):e1255\u201361.","journal-title":"Pediatrics"},{"issue":"2","key":"2484_CR17","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.ymgme.2007.09.011","volume":"93","author":"GJ Ruijter","year":"2008","unstructured":"Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab. 2008;93(2):104\u201311.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"2484_CR18","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1111\/apa.12169","volume":"102","author":"FA Wijburg","year":"2013","unstructured":"Wijburg FA, Wegrzyn G, Burton BK, Tylki-Szymanska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit\/hyperactivity disorder or autism spectrum disorder. Acta Paediatr. 2013;102(5):462\u201370.","journal-title":"Acta Paediatr"},{"issue":"3","key":"2484_CR19","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/ajmg.c.30142","volume":"145C","author":"U Moog","year":"2007","unstructured":"Moog U, van Mierlo I, van Schrojenstein HMJ, Valk L, Spaapen L, Maaskant MA, Curfs LMG. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet Part C Semin Med Genet. 2007;145C(3):293\u2013301.","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"issue":"4","key":"2484_CR20","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.jclinepi.2013.12.002","volume":"67","author":"IR Diamond","year":"2014","unstructured":"Diamond IR, Grant RC, Feldman BM, Pencharz PB, Ling SC, Moore AM, et al. Defining consensus: a systematic review recommends methodologic criteria for reporting of Delphi studies. J Clin Epidemiol. 2014;67(4):401\u20139.","journal-title":"J Clin Epidemiol"},{"issue":"3","key":"2484_CR21","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/s10545-013-9661-8","volume":"37","author":"D Buhrman","year":"2014","unstructured":"Buhrman D, Thakkar K, Poe M, Escolar ML. Natural history of Sanfilippo syndrome type A. J Inherit Metab Dis. 2014;37(3):431\u20137.","journal-title":"J Inherit Metab Dis"},{"key":"2484_CR22","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1186\/1750-1172-8-189","volume":"8","author":"V Delgadillo","year":"2013","unstructured":"Delgadillo V, del Mar OM, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis. 2013;8:189.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2484_CR23","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s13023-017-0733-y","volume":"13","author":"GA Kuiper","year":"2018","unstructured":"Kuiper GA, Meijer OLM, Langereis EJ, Wijburg FA. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. Orphanet J Rare Dis. 2018;13(1):2.","journal-title":"Orphanet J Rare Dis"},{"issue":"13","key":"2484_CR24","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1002\/ajmg.a.32320","volume":"146A","author":"T Vieira","year":"2008","unstructured":"Vieira T, Schwartz I, Munoz V, Pinto L, Steiner C, Ribeiro M, et al. Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A. 2008;146A(13):1741\u20137.","journal-title":"Am J Med Genet A"},{"key":"2484_CR25","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.ymgmr.2016.01.003","volume":"6","author":"E Shapiro","year":"2016","unstructured":"Shapiro E, King K, Ahmed A, Rudser K, Rumsey R, Yund B, et al. The neurobehavioral phenotype in mucopolysaccharidosis type IIIB: an exploratory study. Mol Genet Metab Rep. 2016;6:41\u20137.","journal-title":"Mol Genet Metab Rep"},{"key":"2484_CR26","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/bld.12248","volume":"47","author":"C Wolfenden","year":"2019","unstructured":"Wolfenden C, Wittkowski A, Jones SA, Rust S, Hare DJ. Autism spectrum disorder symptomatology in children with mucopolysaccharide disease type III. Br J Learn Disabil. 2019;47:5\u201311.","journal-title":"Br J Learn Disabil"},{"key":"2484_CR27","doi-asserted-by":"publisher","DOI":"10.1590\/2326-4594-jiems-2020-0002","volume":"8","author":"M Escolar","year":"2020","unstructured":"Escolar M, Bradshaw J, Tharp Byers V, Giugliani R, Golightly L, Marques Louren\u00e7o C, et al. Development of a clinical algorithm for the early diagnosis and mucopolysaccharidosis III. J Inborn Errors Metab Screen. 2020;8: e20200002.","journal-title":"J Inborn Errors Metab Screen"},{"issue":"5","key":"2484_CR28","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1016\/j.suc.2013.06.016","volume":"93","author":"KB Kelly","year":"2013","unstructured":"Kelly KB, Ponsky TA. Pediatric abdominal wall defects. Surg Clin North Am. 2013;93(5):1255\u201367.","journal-title":"Surg Clin North Am"},{"issue":"1","key":"2484_CR29","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1186\/s13023-019-1232-0","volume":"14","author":"SCM Nijmeijer","year":"2019","unstructured":"Nijmeijer SCM, van den Born LI, Kievit AJA, Stepien KM, Langendonk J, Marchal JP, et al. The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. Orphanet J Rare Dis. 2019;14(1):249.","journal-title":"Orphanet J Rare Dis"},{"issue":"1\u20132","key":"2484_CR30","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.ymgme.2014.07.013","volume":"113","author":"OA Bodamer","year":"2014","unstructured":"Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): a changing landscape. Mol Genet Metab. 2014;113(1\u20132):34\u201341.","journal-title":"Mol Genet Metab"},{"issue":"Suppl 5","key":"2484_CR31","doi-asserted-by":"publisher","first-page":"v41","DOI":"10.1093\/rheumatology\/ker390","volume":"50","author":"TJ Lehman","year":"2011","unstructured":"Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(Suppl 5):v41\u20138.","journal-title":"Rheumatology"},{"issue":"6","key":"2484_CR32","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1093\/clinchem\/38.6.803","volume":"38","author":"JG de Jong","year":"1992","unstructured":"de Jong JG, Wevers RA, Liebrand-van Sambeek R. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem. 1992;38(6):803\u20137.","journal-title":"Clin Chem"},{"issue":"13\u201314","key":"2484_CR33","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1016\/j.clinbiochem.2014.06.012","volume":"47","author":"K Komosinska-Vassev","year":"2014","unstructured":"Komosinska-Vassev K, Blat D, Olczyk P, Szeremeta A, Jura-Poltorak A, Winsz-Szczotka K, et al. Urinary glycosaminoglycan (uGAG) excretion in healthy pediatric and adolescent population. Clin Biochem. 2014;47(13\u201314):1341\u20133.","journal-title":"Clin Biochem"},{"issue":"10","key":"2484_CR34","doi-asserted-by":"publisher","first-page":"2074","DOI":"10.1093\/clinchem\/35.10.2074","volume":"35","author":"CB Whitley","year":"1989","unstructured":"Whitley CB, Draper KA, Dutton CM, Brown PA, Severson SL, France LA. Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. Clin Chem. 1989;35(10):2074\u201381.","journal-title":"Clin Chem"},{"issue":"3","key":"2484_CR35","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1093\/clinchem\/35.3.374","volume":"35","author":"CB Whitley","year":"1989","unstructured":"Whitley CB, Ridnour MD, Draper KA, Dutton CM, Neglia JP. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem. 1989;35(3):374\u20139.","journal-title":"Clin Chem"},{"issue":"4","key":"2484_CR36","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1006\/mgme.1998.2761","volume":"65","author":"S Byers","year":"1998","unstructured":"Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab. 1998;65(4):282\u201390.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2484_CR37","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/BF01799446","volume":"19","author":"TA Giudici","year":"1996","unstructured":"Giudici TA, Sunico H, Blaskovics M. Diagnostic screening for mucopolysaccharidoses types I-VII by fluorophore-labelled carbohydrate PAGE. J Inherit Metab Dis. 1996;19(2):263\u20136.","journal-title":"J Inherit Metab Dis"},{"issue":"1\u20132","key":"2484_CR38","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.ymgme.2016.09.005","volume":"120","author":"F Kubaski","year":"2017","unstructured":"Kubaski F, Osago H, Mason RW, Yamaguchi S, Kobayashi H, Tsuchiya M, et al. Glycosaminoglycans detection methods: applications of mass spectrometry. Mol Genet Metab. 2017;120(1\u20132):67\u201377.","journal-title":"Mol Genet Metab"},{"key":"2484_CR39","doi-asserted-by":"publisher","first-page":"269","DOI":"10.2147\/TACG.S57672","volume":"8","author":"AO Fedele","year":"2015","unstructured":"Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet. 2015;8:269\u201381.","journal-title":"Appl Clin Genet"},{"issue":"10","key":"2484_CR40","doi-asserted-by":"publisher","first-page":"5185","DOI":"10.1073\/pnas.75.10.5185","volume":"75","author":"U Klein","year":"1978","unstructured":"Klein U, Kresse H, von Figura K. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci USA. 1978;75(10):5185\u20139.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"3","key":"2484_CR41","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1016\/0006-291X(73)90807-3","volume":"54","author":"H Kresse","year":"1973","unstructured":"Kresse H. Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. Biochem Biophys Res Commun. 1973;54(3):1111\u20138.","journal-title":"Biochem Biophys Res Commun"},{"issue":"2","key":"2484_CR42","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1111\/j.1432-1033.1977.tb11908.x","volume":"80","author":"F Kurt","year":"1977","unstructured":"von Figura K. Human alpha-N-acetylglucosaminidase. 1. Purification and properties. Eur J Biochem. 1977;80(2):525\u201333.","journal-title":"Eur J Biochem"},{"issue":"3","key":"2484_CR43","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1007\/BF01799255","volume":"19","author":"EA Karpova","year":"1996","unstructured":"Karpova EA, Voznyi Ya V, Keulemans JL, Hoogeveen AT, Winchester B, Tsvetkova IV, et al. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis. 1996;19(3):278\u201385.","journal-title":"J Inherit Metab Dis"},{"issue":"1\u20132","key":"2484_CR44","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.ymgme.2018.05.005","volume":"125","author":"F Yi","year":"2018","unstructured":"Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, et al. Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. Mol Genet Metab. 2018;125(1\u20132):59\u201363.","journal-title":"Mol Genet Metab"},{"issue":"17","key":"2484_CR45","doi-asserted-by":"publisher","first-page":"11721","DOI":"10.1021\/acs.analchem.0c01750","volume":"92","author":"H Khaledi","year":"2020","unstructured":"Khaledi H, Gelb MH. Tandem mass spectrometry enzyme assays for multiplex detection of 10-mucopolysaccharidoses in dried blood spots and fibroblasts. Anal Chem. 2020;92(17):11721\u20137.","journal-title":"Anal Chem"},{"issue":"4","key":"2484_CR46","first-page":"288","volume":"27","author":"R Zakaria","year":"2016","unstructured":"Zakaria R, Allen KJ, Koplin JJ, Roche P, Greaves RF. Advantages and challenges of dried blood spot analysis by mass spectrometry across the total testing process. EJIFCC. 2016;27(4):288\u2013317.","journal-title":"EJIFCC"},{"issue":"3","key":"2484_CR47","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1021\/bc200609x","volume":"23","author":"BJ Wolfe","year":"2012","unstructured":"Wolfe BJ, Ghomashchi F, Kim T, Abam CA, Sadilek M, Jack R, et al. New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry. Bioconjug Chem. 2012;23(3):557\u201364.","journal-title":"Bioconjug Chem"},{"issue":"1","key":"2484_CR48","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1038\/ejhg.2011.126","volume":"20","author":"KK Selmer","year":"2012","unstructured":"Selmer KK, Gilfillan GD, Stromme P, Lyle R, Hughes T, Hjorthaug HS, et al. A mild form of mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. Eur J Human Genet. 2012;20(1):58\u201363.","journal-title":"Eur J Human Genet"},{"issue":"4","key":"2484_CR49","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1515\/jpem-2016-0333","volume":"30","author":"Q Zeng","year":"2017","unstructured":"Zeng Q, Fan Y, Wang L, Huang Z, Gu X, Yu Y. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB. J Pediatr Endocrinol Metab. 2017;30(4):463\u20139.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"7","key":"2484_CR50","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/s10038-020-0744-8","volume":"65","author":"N Arunkumar","year":"2020","unstructured":"Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, et al. Newborn screening of mucopolysaccharidoses: past, present, and future. J Human Genet. 2020;65(7):557\u201367.","journal-title":"J Human Genet"},{"issue":"5","key":"2484_CR51","doi-asserted-by":"publisher","first-page":"e1030","DOI":"10.1542\/peds.2008-0582","volume":"122","author":"J Hatzmann","year":"2008","unstructured":"Hatzmann J, Heymans HS, Ferrer-i-Carbonell A, van Praag BM, Grootenhuis MA. Hidden consequences of success in pediatrics: parental health-related quality of life: results from the Care Project. Pediatrics. 2008;122(5):e1030\u20138.","journal-title":"Pediatrics"},{"issue":"1","key":"2484_CR52","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1111\/j.1442-200X.2008.02652.x","volume":"51","author":"I Kuratsubo","year":"2009","unstructured":"Kuratsubo I, Suzuki Y, Orii KO, Kato T, Orii T, Kondo N. Psychological status of patients with mucopolysaccharidosis type II and their parents. Pediatr Int. 2009;51(1):41\u20137.","journal-title":"Pediatr Int"},{"issue":"9","key":"2484_CR53","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1111\/j.1651-2227.2012.02680.x","volume":"101","author":"C Malcolm","year":"2012","unstructured":"Malcolm C, Hain R, Gibson F, Adams S, Anderson G, Forbat L. Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families. Acta Paediatr. 2012;101(9):985\u201392.","journal-title":"Acta Paediatr"},{"issue":"1","key":"2484_CR54","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1186\/s13023-016-0521-0","volume":"11","author":"S Somanadhan","year":"2016","unstructured":"Somanadhan S, Larkin PJ. Parents\u2019 experiences of living with, and caring for children, adolescents and young adults with mucopolysaccharidosis (MPS). Orphanet J Rare Dis. 2016;11(1):138.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"2484_CR55","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.ymgme.2012.01.014","volume":"105","author":"SL Weber","year":"2012","unstructured":"Weber SL, Segal S, Packman W. Inborn errors of metabolism: psychosocial challenges and proposed family systems model of intervention. Mol Genet Metab. 2012;105(4):537\u201341.","journal-title":"Mol Genet Metab"},{"issue":"4","key":"2484_CR56","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1093\/jpepsy\/jsj054","volume":"31","author":"AE Kazak","year":"2006","unstructured":"Kazak AE, Kassam-Adams N, Schneider S, Zelikovsky N, Alderfer MA, Rourke M. An integrative model of pediatric medical traumatic stress. J Pediatr Psychol. 2006;31(4):343\u201355.","journal-title":"J Pediatr Psychol"},{"issue":"1","key":"2484_CR57","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1002\/jts.22354","volume":"32","author":"M Pinquart","year":"2019","unstructured":"Pinquart M. Posttraumatic stress symptoms and disorders in parents of children and adolescents with chronic physical illnesses: a meta-analysis. J Trauma Stress. 2019;32(1):88\u201396.","journal-title":"J Trauma Stress"},{"issue":"3","key":"2484_CR58","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.chc.2006.02.006","volume":"15","author":"ML Stuber","year":"2006","unstructured":"Stuber ML, Shemesh E. Post-traumatic stress response to life-threatening illnesses in children and their parents. Child Adolesc Psychiatr Clin N Am. 2006;15(3):597\u2013609.","journal-title":"Child Adolesc Psychiatr Clin N Am"},{"key":"2484_CR59","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/8904_2018_119","volume":"44","author":"T Conijn","year":"2019","unstructured":"Conijn T, Nijmeijer SCM, van Oers HA, Wijburg FA, Haverman L. Psychosocial functioning in parents of MPS III patients. JIMD Rep. 2019;44:33\u201341.","journal-title":"JIMD Rep"},{"issue":"5","key":"2484_CR60","doi-asserted-by":"publisher","first-page":"304","DOI":"10.5455\/medarh.2012.66.304-308","volume":"66","author":"Z Selimbasic","year":"2012","unstructured":"Selimbasic Z, Sinanovic O, Avdibegovic E. Psychosocial problems among children of parents with posttraumatic stress disorder. Med Arch. 2012;66(5):304\u20138.","journal-title":"Med Arch"},{"issue":"1","key":"2484_CR61","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1186\/s13023-021-01768-7","volume":"16","author":"T Conijn","year":"2021","unstructured":"Conijn T, Haverman L, Wijburg FA, De Roos C. Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study. Orphanet J Rare Dis. 2021;16(1):126.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2484_CR62","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ymgme.2021.03.002","volume":"133","author":"EG Shapiro","year":"2021","unstructured":"Shapiro EG, Eisengart JB. The natural history of neurocognition in MPS disorders: a review. Mol Genet Metab. 2021;133(1):8\u201334.","journal-title":"Mol Genet Metab"},{"key":"2484_CR63","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgme.2017.08.009","volume":"122S","author":"EG Shapiro","year":"2017","unstructured":"Shapiro EG, Jones SA, Escolar ML. Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations \u2013 neurological signs and symptoms. Mol Genet Metab. 2017;122S:1\u20137.","journal-title":"Mol Genet Metab"},{"issue":"278\u201387","key":"2484_CR64","first-page":"e1","volume":"170","author":"EG Shapiro","year":"2016","unstructured":"Shapiro EG, Nestrasil I, Delaney KA, Rudser K, Kovac V, Nair N, et al. A prospective natural history study of mucopolysaccharidosis type IIIA. J Pediatr. 2016;170(278\u201387):e1\u20134.","journal-title":"J Pediatr"},{"issue":"2","key":"2484_CR65","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ymgme.2017.05.005","volume":"121","author":"D Janzen","year":"2017","unstructured":"Janzen D, Delaney KA, Shapiro EG. Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: a review of the literature. Mol Genet Metab. 2017;121(2):57\u201369.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"2484_CR66","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1111\/j.1469-8749.1996.tb12114.x","volume":"38","author":"GA Colville","year":"1996","unstructured":"Colville GA, Watters JP, Yule W, Bax M. Sleep problems in children with Sanfilippo syndrome. Dev Med Child Neurol. 1996;38(6):538\u201344.","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"2484_CR67","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10545-012-9572-0","volume":"36","author":"EM Cross","year":"2013","unstructured":"Cross EM, Hare DJ. Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. J Inherit Metab Dis. 2013;36(2):189\u2013200.","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl 1","key":"2484_CR68","first-page":"133","volume":"12","author":"JA Gilkes","year":"2014","unstructured":"Gilkes JA, Heldermon CD. Mucopolysaccharidosis III (Sanfilippo syndrome) \u2013 disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014;12(Suppl 1):133\u201340.","journal-title":"Pediatr Endocrinol Rev"},{"issue":"5","key":"2484_CR69","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1016\/j.jpeds.2014.01.007","volume":"164","author":"RK Rumsey","year":"2014","unstructured":"Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr. 2014;164(5):1147\u201351.e1.","journal-title":"J Pediatr"},{"issue":"6","key":"2484_CR70","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1080\/13803395.2013.804035","volume":"35","author":"M Potegal","year":"2013","unstructured":"Potegal M, Yund B, Rudser K, Ahmed A, Delaney K, Nestrasil I, et al. Mucopolysaccharidosis type IIIA presents as a variant of Kluver-Bucy syndrome. J Clin Exp Neuropsychol. 2013;35(6):608\u201316.","journal-title":"J Clin Exp Neuropsychol"},{"issue":"3","key":"2484_CR71","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1136\/adc.69.3.403","volume":"69","author":"MA Cleary","year":"1993","unstructured":"Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child. 1993;69(3):403\u20136.","journal-title":"Arch Dis Child"},{"key":"2484_CR72","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ymgme.2017.09.007","volume":"122S","author":"EG Shapiro","year":"2017","unstructured":"Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ. Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses. Mol Genet Metab. 2017;122S:8\u201316.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2484_CR73","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.ymgme.2017.05.004","volume":"121","author":"JH van der Lee","year":"2017","unstructured":"van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, et al. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: results of a consensus procedure. Mol Genet Metab. 2017;121(2):70\u20139.","journal-title":"Mol Genet Metab"},{"issue":"1\u20132","key":"2484_CR74","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ymgme.2020.08.007","volume":"131","author":"JH van der Lee","year":"2020","unstructured":"van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, et al. Therapy development for the mucopolysaccharidoses: updated consensus recommendations for neuropsychological endpoints. Mol Genet Metab. 2020;131(1\u20132):181\u201396.","journal-title":"Mol Genet Metab"},{"key":"2484_CR75","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/s10882-018-9601-5","volume":"30","author":"KA Schreck","year":"2018","unstructured":"Schreck KA, Helsel C, Paxon A, Weston K, Daniels M. Regression trends and treatment effectiveness to improve quality of life for a pre-adolescent girl with MPS IIIA. J Develop Physical Dis. 2018;30:545\u201358.","journal-title":"J Develop Physical Dis"},{"key":"2484_CR76","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.ymgme.2017.10.006","volume":"122S","author":"M Scarpa","year":"2017","unstructured":"Scarpa M, Lourenco CM, Amartino H. Epilepsy in mucopolysaccharidosis disorders. Mol Genet Metab. 2017;122S:55\u201361.","journal-title":"Mol Genet Metab"},{"issue":"9","key":"2484_CR77","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1016\/j.braindev.2013.12.002","volume":"36","author":"P Bonanni","year":"2014","unstructured":"Bonanni P, Volzone A, Randazzo G, Antoniazzi L, Rampazzo A, Scarpa M, et al. Nocturnal frontal lobe epilepsy in mucopolysaccharidosis. Brain Dev. 2014;36(9):826\u20139.","journal-title":"Brain Dev"},{"issue":"5","key":"2484_CR78","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1055\/s-2007-973503","volume":"30","author":"R Barone","year":"1999","unstructured":"Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics. 1999;30(5):270\u20134.","journal-title":"Neuropediatrics"},{"issue":"12","key":"2484_CR79","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1001\/archneur.1978.00500360062013","volume":"35","author":"RL Kriel","year":"1978","unstructured":"Kriel RL, Hauser WA, Sung JH, Posalaky Z. Neuroanatomical and electroencephalographic correlations in Sanfilippo syndrome, type A. Arch Neurol. 1978;35(12):838\u201343.","journal-title":"Arch Neurol"},{"issue":"Suppl 1","key":"2484_CR80","first-page":"S186","volume":"39","author":"R Barone","year":"2016","unstructured":"Barone R, Cocuzza MD, Guida C, Miano G, Sofia V, Fiumara A. EEG features in patients with mucopolysaccharidoses III at different disease stages. J Inherit Metab Dis. 2016;39(Suppl 1):S186.","journal-title":"J Inherit Metab Dis"},{"key":"2484_CR81","first-page":"73","volume-title":"Lysosomal storage diseases: early diagnosis and new treatments","author":"D Grioni","year":"2010","unstructured":"Grioni D, Contri M, Furlan F, Rigoldi M, Rovelli A, Parini R. Epilepsy in mucopolysaccharidosis: clinical features and outcome. In: Parini R, Andria G, editors. Lysosomal storage diseases: early diagnosis and new treatments. Montrouge: John Libbey Eurotext; 2010. p. 73\u201380."},{"issue":"4","key":"2484_CR82","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1684\/j.1950-6945.2000.tb00442.x","volume":"2","author":"PW Kaplan","year":"2000","unstructured":"Kaplan PW. Prognosis in nonconvulsive status epilepticus. Epileptic Disord. 2000;2(4):185\u201393.","journal-title":"Epileptic Disord"},{"issue":"Suppl 2","key":"2484_CR83","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1186\/s13052-018-0561-2","volume":"44","author":"R Barone","year":"2018","unstructured":"Barone R, Pellico A, Pittala A, Gasperini S. Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):121.","journal-title":"Ital J Pediatr"},{"issue":"2","key":"2484_CR84","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0084128","volume":"9","author":"LV Mahon","year":"2014","unstructured":"Mahon LV, Lomax M, Grant S, Cross E, Hare DJ, Wraith JE, et al. Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One. 2014;9(2): e84128.","journal-title":"PLoS ONE"},{"key":"2484_CR85","doi-asserted-by":"publisher","first-page":"97","DOI":"10.5935\/1984-0063.20200113","volume":"14","author":"AA Abramova","year":"2021","unstructured":"Abramova AA, Attarian HP, Dolgova SM, Belyakova-Bodina AI, Iakovenko EV, Broutian AG. Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III. Sleep Sci. 2021;14:97\u2013100.","journal-title":"Sleep Sci"},{"issue":"Suppl 2","key":"2484_CR86","first-page":"127","volume":"44","author":"PM Bianchi","year":"2018","unstructured":"Bianchi PM, Gaini R, Vitale S. ENT and mucopolysaccharidoses. Ital. J Pediatr. 2018;44(Suppl 2):127.","journal-title":"J Pediatr"},{"issue":"2","key":"2484_CR87","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0165-5876(01)00417-7","volume":"58","author":"SE Leighton","year":"2001","unstructured":"Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2001;58(2):127\u201338.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"1","key":"2484_CR88","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s11689-015-9126-5","volume":"7","author":"RA Mumford","year":"2015","unstructured":"Mumford RA, Mahon LV, Jones S, Bigger B, Canal M, Hare DJ. Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome). J Neurodev Disord. 2015;7(1):31.","journal-title":"J Neurodev Disord"},{"issue":"12","key":"2484_CR89","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1136\/adc.2004.065482","volume":"90","author":"J Fraser","year":"2005","unstructured":"Fraser J, Gason AA, Wraith JE, Delatycki MB. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child. 2005;90(12):1239\u201342.","journal-title":"Arch Dis Child"},{"issue":"1","key":"2484_CR90","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1186\/s13023-017-0717-y","volume":"12","author":"C Lavery","year":"2017","unstructured":"Lavery C, Hendriksz CJ, Jones SA. Mortality in patients with Sanfilippo syndrome. Orphanet J Rare Dis. 2017;12(1):168.","journal-title":"Orphanet J Rare Dis"},{"issue":"8","key":"2484_CR91","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1177\/000992289803700805","volume":"37","author":"SJ Bachrach","year":"1998","unstructured":"Bachrach SJ, Walter RS, Trzcinski K. Use of glycopyrrolate and other anticholinergic medications for sialorrhea in children with cerebral palsy. Clin Pediatr (Phila). 1998;37(8):485\u201390.","journal-title":"Clin Pediatr (Phila)"},{"issue":"4","key":"2484_CR92","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1177\/0310057X9602400408","volume":"24","author":"C Moores","year":"1996","unstructured":"Moores C, Rogers JG, McKenzie IM, Brown TC. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care. 1996;24(4):459\u201363.","journal-title":"Anaesth Intensive Care"},{"issue":"5","key":"2484_CR93","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1111\/pan.12876","volume":"26","author":"EC Cingi","year":"2016","unstructured":"Cingi EC, Beebe DS, Whitley CB, Belani KG. Anesthetic care and perioperative complications in children with Sanfilipo syndrome type A. Paediatr Anaesth. 2016;26(5):531\u20138.","journal-title":"Paediatr Anaesth"},{"issue":"4","key":"2484_CR94","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1111\/pan.13075","volume":"27","author":"MA Cohen","year":"2017","unstructured":"Cohen MA, Stuart GM. Delivery of anesthesia for children with mucopolysaccharidosis type III (Sanfilippo syndrome): a review of 86 anesthetics. Paediatr Anaesth. 2017;27(4):363\u20139.","journal-title":"Paediatr Anaesth"},{"issue":"4","key":"2484_CR95","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1111\/pan.13108","volume":"27","author":"M Kamata","year":"2017","unstructured":"Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, et al. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017;27(4):370\u20136.","journal-title":"Paediatr Anaesth"},{"issue":"16","key":"2484_CR96","doi-asserted-by":"publisher","first-page":"3518","DOI":"10.3390\/jcm10163518","volume":"10","author":"LS Ammer","year":"2021","unstructured":"Ammer LS, Dohrmann T, Muschol NM, Lang A, Breyer SR, Ozga AK, et al. Disease manifestations in mucopolysaccharidoses and their impact on anaesthesia-related complications a retrospective analysis of 99 patients. J Clin Med. 2021;10(16):3518.","journal-title":"J Clin Med"},{"issue":"5","key":"2484_CR97","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1111\/pan.13379","volume":"28","author":"V Scaravilli","year":"2018","unstructured":"Scaravilli V, Zanella A, Ciceri V, Bosatra M, Flandoli C, La Bruna A, et al. Safety of anesthesia for children with mucopolysaccharidoses: a retrospective analysis of 54 patients. Paediatr Anaesth. 2018;28(5):436\u201342.","journal-title":"Paediatr Anaesth"},{"issue":"4","key":"2484_CR98","first-page":"267","volume":"33","author":"M Mesolella","year":"2013","unstructured":"Mesolella M, Cimmino M, Cantone E, Marino A, Cozzolino M, Della Casa R, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33(4):267\u201372.","journal-title":"Acta Otorhinolaryngol Ital"},{"issue":"12","key":"2484_CR99","doi-asserted-by":"publisher","first-page":"1612","DOI":"10.1016\/S0161-6420(86)33537-1","volume":"93","author":"RC Caruso","year":"1986","unstructured":"Caruso RC, Kaiser-Kupfer MI, Muenzer J, Ludwig IH, Zasloff MA, Mercer PA. Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology. 1986;93(12):1612\u20136.","journal-title":"Ophthalmology"},{"issue":"8","key":"2484_CR100","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1001\/archopht.1983.01040020257020","volume":"101","author":"MA Del Monte","year":"1983","unstructured":"Del Monte MA, Maumenee IH, Green WR, Kenyon KR. Histopathology of Sanfilippo\u2019s syndrome. Arch Ophthalmol. 1983;101(8):1255\u201362.","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"2484_CR101","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1159\/000307137","volume":"169","author":"J Fran\u00e7ois","year":"1974","unstructured":"Fran\u00e7ois J. Ocular manifestations of the mucopolysaccharidoses. Ophthalmologica. 1974;169(5):345\u201361.","journal-title":"Ophthalmologica"},{"issue":"2","key":"2484_CR102","doi-asserted-by":"publisher","first-page":"217","DOI":"10.3109\/13816810.2015.1028647","volume":"37","author":"J Wilkin","year":"2016","unstructured":"Wilkin J, Kerr NC, Byrd KW, Ward JC, Iannaccone A. Characterization of a case of pigmentary retinopathy in Sanfilippo syndrome type IIIA associated with compound heterozygous mutations in the SGSH gene. Ophthalmic Genet. 2016;37(2):217\u201327.","journal-title":"Ophthalmic Genet"},{"issue":"5","key":"2484_CR103","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1006\/exer.1998.0622","volume":"68","author":"J Alroy","year":"1999","unstructured":"Alroy J, Haskins M, Birk DE. Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I III and VI Exp. Eye Res. 1999;68(5):523\u201330.","journal-title":"Eye Res"},{"issue":"11","key":"2484_CR104","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1016\/S0161-6420(90)32400-4","volume":"97","author":"ML Collins","year":"1990","unstructured":"Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology. 1990;97(11):1445\u20139.","journal-title":"Ophthalmology"},{"issue":"2","key":"2484_CR105","doi-asserted-by":"publisher","DOI":"10.5395\/rde.2019.44.e14","volume":"44","author":"JH Yoon","year":"2019","unstructured":"Yoon JH, Lee HI, Jang JH, Choi SH, Chang HS, Hwang YC, et al. Oral manifestation and root canal therapy of the patient with mucopolysaccharidosis. Restor Dent Endod. 2019;44(2): e14.","journal-title":"Restor Dent Endod"},{"issue":"3","key":"2484_CR106","first-page":"176","volume":"79","author":"S Mellara Tde","year":"2012","unstructured":"Mellara Tde S, Azevedo DT, Faria G, Nelson Filho P, Queiroz AM, Brentegani LG. Dental findings and management in a mucopolysaccharidosis type IIIB patient. J Dent Child (Chic). 2012;79(3):176\u201380.","journal-title":"J Dent Child (Chic)"},{"issue":"5","key":"2484_CR107","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/0030-4220(77)90058-5","volume":"43","author":"MS Webman","year":"1977","unstructured":"Webman MS, Hirsch SA, Webman H, Stanley HR. Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). Oral Surg Oral Med Oral Pathol. 1977;43(5):734\u20138.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"issue":"2","key":"2484_CR108","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1002\/jimd.12015","volume":"42","author":"SCM Nijmeijer","year":"2019","unstructured":"Nijmeijer SCM, de Bruin-Bon R, Wijburg FA, Kuipers IM. Cardiac disease in mucopolysaccharidosis type III. J Inherit Metab Dis. 2019;42(2):276\u201385.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"2484_CR109","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ymgme.2018.04.010","volume":"124","author":"CM Wilhelm","year":"2018","unstructured":"Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018;124(2):131\u20134.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"2484_CR110","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1016\/j.braindev.2016.12.008","volume":"39","author":"R Kato","year":"2017","unstructured":"Kato R, Miyahara H, Kawano T, Matsuzuka A, Noda K, Izumi T. Heparan sulfate storage in the cardiac conduction system triggers atrioventricular block. Brain Dev. 2017;39(5):418\u201321.","journal-title":"Brain Dev"},{"issue":"21","key":"2484_CR111","doi-asserted-by":"publisher","first-page":"2313","DOI":"10.2169\/internalmedicine.49.4210","volume":"49","author":"I Misumi","year":"2010","unstructured":"Misumi I, Chikazawa S, Ishitsu T, Higuchi S, Shimazu T, Ikeda C, et al. Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. Intern Med. 2010;49(21):2313\u20136.","journal-title":"Intern Med"},{"issue":"5","key":"2484_CR112","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1097\/BPO.0b013e31821f5ee9","volume":"31","author":"KK White","year":"2011","unstructured":"White KK, Karol LA, White DR, Hale S. Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III). J Pediatr Orthop. 2011;31(5):594\u20138.","journal-title":"J Pediatr Orthop"},{"issue":"3","key":"2484_CR113","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1007\/s00774-016-0762-y","volume":"35","author":"BG Nur","year":"2017","unstructured":"Nur BG, Nur H, Mihci E. Bone mineral density in patients with mucopolysaccharidosis type III. J Bone Miner Metab. 2017;35(3):338\u201343.","journal-title":"J Bone Miner Metab"},{"issue":"6","key":"2484_CR114","doi-asserted-by":"publisher","first-page":"e20171002","DOI":"10.1542\/peds.2017-1002","volume":"139","author":"J Hauer","year":"2017","unstructured":"Hauer J, Houtrow AJ. Pain assessment and treatment in children with significant impairment of the central nervous system. Pediatrics. 2017;139(6):e20171002.","journal-title":"Pediatrics"},{"issue":"3","key":"2484_CR115","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.ymgme.2016.08.002","volume":"119","author":"KV Truxal","year":"2016","unstructured":"Truxal KV, Fu H, McCarty DM, McNally KA, Kunkler KL, Zumberge NA, et al. A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: implications for clinical trial design. Mol Genet Metab. 2016;119(3):239\u201348.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"2484_CR116","doi-asserted-by":"publisher","first-page":"5","DOI":"10.3174\/ajnr.A2832","volume":"34","author":"DI Zafeiriou","year":"2013","unstructured":"Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiol. 2013;34(1):5\u201313.","journal-title":"Am J Neuroradiol"},{"issue":"5","key":"2484_CR117","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/0730-725X(87)90120-2","volume":"5","author":"MV Kulkarni","year":"1987","unstructured":"Kulkarni MV, Williams JC, Yeakley JW, Andrews JL, McArdle CB, Narayana PA, et al. Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 1987;5(5):317\u201323.","journal-title":"Magn Reson Imaging"},{"issue":"4","key":"2484_CR118","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1148\/rg.274065722","volume":"27","author":"RM Kwee","year":"2007","unstructured":"Kwee RM, Kwee TC. Virchow-Robin spaces at MR imaging. Radiographics. 2007;27(4):1071\u201386.","journal-title":"Radiographics"},{"issue":"1\u20132","key":"2484_CR119","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/S0304-3959(02)00179-3","volume":"99","author":"LM Breau","year":"2002","unstructured":"Breau LM, McGrath PJ, Camfield CS, Finley GA. Psychometric properties of the non-communicating children\u2019s pain checklist-revised. Pain. 2002;99(1\u20132):349\u201357.","journal-title":"Pain"},{"issue":"1","key":"2484_CR120","doi-asserted-by":"publisher","first-page":"37","DOI":"10.3233\/PRM-2012-0194","volume":"5","author":"NR Guarany","year":"2012","unstructured":"Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5(1):37\u201346.","journal-title":"J Pediatr Rehabil Med"},{"issue":"8","key":"2484_CR121","doi-asserted-by":"publisher","first-page":"1911","DOI":"10.3390\/s19081911","volume":"19","author":"Y Elsahar","year":"2019","unstructured":"Elsahar Y, Hu S, Bouazza-Marouf K, Kerr D, Mansor A. Augmentative and alternative communication (AAC) advances: a review of configurations for individuals with a speech disability. Sensors. 2019;19(8):1911.","journal-title":"Sensors"},{"issue":"3","key":"2484_CR122","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s10545-013-9658-3","volume":"37","author":"J de Ruijter","year":"2014","unstructured":"de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, et al. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. 2014;37(3):447\u201354.","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"2484_CR123","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/s13023-019-1065-x","volume":"14","author":"NM Muschol","year":"2019","unstructured":"Muschol NM, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann JB, et al. Growth charts for patients with Sanfilippo syndrome (mucopolysaccharidosis type III). Orphanet J Rare Dis. 2019;14(1):93.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"2484_CR124","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.ejmg.2008.05.002","volume":"51","author":"D Concolino","year":"2008","unstructured":"Concolino D, Muzzi G, Pisaturo L, Piccirillo A, Di Natale P, Strisciuglio P. Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases. Eur J Med Genet. 2008;51(5):466\u201371.","journal-title":"Eur J Med Genet"},{"issue":"4","key":"2484_CR125","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1515\/JPEM.1995.8.4.291","volume":"8","author":"A Tylki-Szymanska","year":"1995","unstructured":"Tylki-Szymanska A, Metera M. Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). J Pediatr Endocrinol Metab. 1995;8(4):291\u20133.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"2","key":"2484_CR126","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/s10545-012-9558-y","volume":"36","author":"S Grant","year":"2013","unstructured":"Grant S, Cross E, Wraith JE, Jones S, Mahon L, Lomax M, et al. Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID). J Inherit Metab Dis. 2013;36(2):281\u201391.","journal-title":"J Inherit Metab Dis"},{"issue":"Pt 3","key":"2484_CR127","first-page":"185","volume":"27","author":"FD Nidiffer","year":"1983","unstructured":"Nidiffer FD, Kelly TE. Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res. 1983;27(Pt 3):185\u2013203.","journal-title":"J Ment Defic Res"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02484-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02484-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02484-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,6]],"date-time":"2024-10-06T18:23:15Z","timestamp":1728238995000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02484-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,27]]},"references-count":127,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2484"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02484-6","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,27]]},"assertion":[{"value":"7 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Nicole Muschol, Roberto Giugliani, Joseph Muenzer, Chester B. Whitley, Nicholas J. C. Smith, and Simon A. Jones have no competing interests in relation to this manuscript. Megan Donnell is on the Board of Sanfilippo Children's Foundation and has no competing interests in relation to this manuscript. Kristina Elvidge and Lisa Melton are employees of Sanfilippo Children\u2019s Foundation and have no competing interests in relation to this manuscript. Cara O\u2019Neill is an employee of Cure Sanfilippo Foundation and has no competing interests in relation to this manuscript. Elise Drake is a volunteer of Cure Sanfilippo Foundation and has no competing interests in relation to this manuscript.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"391"}}