{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T19:16:24Z","timestamp":1780773384345,"version":"3.54.1"},"reference-count":45,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.ymgme.2021.01.008","type":"journal-article","created":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T02:03:09Z","timestamp":1612144989000},"page":"180-188","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Morquio B disease: From pathophysiology towards diagnosis"],"prefix":"10.1016","volume":"132","author":[{"given":"Anna","family":"Caciotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucrezia","family":"Cellai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodolfo","family":"Tonin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Procopio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Andaloro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Antuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Rampazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rigoldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Forni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2021.01.008_bb0005","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajmg.1320010205","article-title":"Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB","volume":"1","author":"Arbisser","year":"1977","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0010","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1111\/j.1399-0004.1976.tb01603.x","article-title":"Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency","volume":"9","author":"O'Brien","year":"1976","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0015","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects","volume":"94","author":"Brunetti-Pierri","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0020","first-page":"471","article-title":"Biological roles of the non-integrin elastin\/laminin receptor","volume":"377","author":"Hinek","year":"1996","journal-title":"Biol. Chem."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0025","doi-asserted-by":"crossref","first-page":"6319","DOI":"10.1074\/jbc.273.11.6319","article-title":"The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin\/laminin-binding protein","volume":"273","author":"Privitera","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0030","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1086\/302968","article-title":"Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase","volume":"67","author":"Hinek","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0035","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.bbadis.2011.03.018","article-title":"GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings","volume":"1812","author":"Caciotti","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0040","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1399-0004.2007.00767.x","article-title":"Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America","volume":"71","author":"Santamaria","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0045","first-page":"89","article-title":"A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene","volume":"42","author":"Sohn","year":"2012","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0050","first-page":"57","article-title":"Morquio B patient\/caregiver survey: first insight into the natural course of a rare GLB1 related condition","volume":"16","author":"Bleier","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0055","first-page":"77","article-title":"beta-galactosidosis in patient with intermediate GM1 and MBD phenotype","volume":"7","author":"Moore","year":"2013","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0060","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1002\/humu.21031","article-title":"GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase","volume":"30","author":"Hofer","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0065","article-title":"Biomarkers in patients with mucopolysaccharidosis type II and IV","volume":"19","author":"Fujitsuka","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2021.01.008_bb0070","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1007\/s10545-009-9013-x","article-title":"Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry","volume":"33","author":"Tomatsu","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0075","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.ymgme.2016.11.007","article-title":"Mucopolysaccharidosis IVA and glycosaminoglycans","volume":"120","author":"Khan","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0080","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/0003-2697(82)90674-1","article-title":"High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses","volume":"119","author":"Hopwood","year":"1982","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0085","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0009-8981(93)90031-X","article-title":"Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples","volume":"221","author":"Piraud","year":"1993","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0090","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/j.1399-0004.1986.tb01262.x","article-title":"Heterogeneity of Morquio disease","volume":"29","author":"Beck","year":"1986","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0095","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.1320150210","article-title":"Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome","volume":"15","author":"Fujimoto","year":"1983","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0100","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ejmg.2012.01.001","article-title":"A new lysosomal storage disorder resembling Morquio syndrome in sibs","volume":"55","author":"Perrin","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0105","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/1750-1172-6-84","article-title":"Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers","volume":"6","author":"Martell","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0110","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.4155\/bio.11.172","article-title":"Validation of an LC-MS\/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome","volume":"3","author":"Martell","year":"2011","journal-title":"Bioanalysis"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0115","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/0003-2697(80)90562-X","article-title":"A new method for characterization of N-sulfated glycosaminoglycans by a rapid and multisample nitrous acid treatment during an electrophoretic run and its application to the analysis of biological samples","volume":"105","author":"Cappelletti","year":"1980","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0120","series-title":"Genetic Metabolic Diseases Early Diagnosis and Prenatal Analysis","volume":"825","author":"Galjaard","year":"1980"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0125","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0009-8981(90)90339-T","article-title":"A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)","volume":"187","author":"van Diggelen","year":"1990","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0130","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.cca.2008.07.021","article-title":"GALNS gene expression profiling in Morquio A patients\u2019 fibroblasts","volume":"397","author":"Carraresi","year":"2008","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0135","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))","volume":"25","author":"Livak","year":"2001","journal-title":"Method Methods"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0140","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/humu.22751","article-title":"Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations","volume":"36","author":"Caciotti","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0145","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1074\/jbc.M111.293795","article-title":"Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases","volume":"287","author":"Ohto","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0150","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1093\/bioinformatics\/btp445","article-title":"Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0","volume":"25","author":"Dehouck","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ymgme.2021.01.008_bb0155","doi-asserted-by":"crossref","first-page":"W215","DOI":"10.1093\/nar\/gkr363","article-title":"SDM--a server for predicting effects of mutations on protein stability and malfunction","volume":"39","author":"Worth","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0160","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF chimera--a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"issue":"Pt 3","key":"10.1016\/j.ymgme.2021.01.008_bb0165","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1042\/bj3130787","article-title":"Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis","volume":"313","author":"Okamura-Oho","year":"1996","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0170","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s00439-003-0930-8","article-title":"Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient","volume":"113","author":"Caciotti","year":"2003","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0175","first-page":"179","article-title":"The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study","volume":"39","author":"van Dongen","year":"1985","journal-title":"Eur. J. Cell Biol."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0180","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s12033-013-9672-6","article-title":"A defined methodology for reliable quantification of Western blot data","volume":"55","author":"Taylor","year":"2013","journal-title":"Mol. Biotechnol."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0185","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1203\/01.PDR.0000113767.60140.E9","article-title":"Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA","volume":"55","author":"Tomatsu","year":"2004","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0190","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/humu.9475","article-title":"GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling","volume":"28","author":"Caciotti","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0195","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ymgme.2013.01.021","article-title":"The Morquio A clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio a subjects","volume":"109","author":"Harmatz","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0200","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ymgme.2013.04.002","article-title":"Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA","volume":"110","author":"Hendriksz","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0205","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s10545-007-0529-7","article-title":"International Morquio A Registry: clinical manifestation and natural course of Morquio A disease","volume":"30","author":"Montano","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0210","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s10545-013-9587-1","article-title":"Diagnosing mucopolysaccharidosis IVA","volume":"36","author":"Wood","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0215","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s12881-018-0694-6","article-title":"Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease","volume":"19","author":"Caciotti","year":"2018","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0220","first-page":"1","article-title":"Di-sulfated Keratan Sulfate as a novel biomarker for Mucopolysaccharidosis II, IVA, and IVB","volume":"21","author":"Shimada","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2021.01.008_bb0225","first-page":"53","article-title":"Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and\/or thrombocytopenia with a next-generation sequencing gene panel","volume":"51","author":"Mu\u00f1oz","year":"2020","journal-title":"JIMD Rep."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719221000093?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719221000093?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:28:02Z","timestamp":1761089282000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719221000093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":45,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S1096719221000093"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2021.01.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Morquio B disease: From pathophysiology towards diagnosis","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2021.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}