{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:17:18Z","timestamp":1753888638276},"reference-count":28,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.cccn.2004.10.009","type":"journal-article","created":{"date-parts":[[2004,12,28]],"date-time":"2004-12-28T23:44:54Z","timestamp":1104277494000},"page":"67-74","source":"Crossref","is-referenced-by-count":28,"title":["Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots"],"prefix":"10.1016","volume":"353","author":[{"given":"Leanne K.","family":"Hein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Meikle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline J.","family":"Dean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle R.","family":"Bockmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dyane","family":"Auclair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doug A.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cccn.2004.10.009_bib1","series-title":"The Metabolic and Molecular Basis of Inherited Diseases","first-page":"3421","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.cccn.2004.10.009_bib2","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.cccn.2004.10.009_bib3","first-page":"1127","article-title":"Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS VI patients","volume":"58","author":"Litjens","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cccn.2004.10.009_bib4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0925-4439(98)00099-4","article-title":"Maroteaux\u2013Lamy syndrome: five novel mutations and their structural localization","volume":"1453","author":"Villani","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.cccn.2004.10.009_bib5","first-page":"689","article-title":"Identification of mutations in the arylsulfatase B gene in Russian patients with type VI mucopolysaccharidosis","volume":"36","author":"Voskoboeva","year":"2000","journal-title":"Russ. J. Genet."},{"key":"10.1016\/j.cccn.2004.10.009_bib6","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/humu.1190","article-title":"Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase","volume":"18","author":"Litjens","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cccn.2004.10.009_bib7","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.10313","article-title":"Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy","volume":"23","author":"Karageorgos","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cccn.2004.10.009_bib8","first-page":"41","article-title":"Bone marrow transplantation in Maroteaux\u2013Lamy syndrome (MPS type 6): status 40 months after BMT","volume":"22","author":"McGovern","year":"1986","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.cccn.2004.10.009_bib9","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1023\/A:1005447232027","article-title":"Bone marrow transplantation for Maroteaux\u2013Lamy syndrome (MPS VI): long-term follow-up","volume":"22","author":"Herskhovitz","year":"1999","journal-title":"J. Inherit Metab. Dis."},{"key":"10.1016\/j.cccn.2004.10.009_bib10","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1126\/science.144321","article-title":"Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux\u2013Lamy syndrome","volume":"198","author":"Jezyk","year":"1977","journal-title":"Science"},{"key":"10.1016\/j.cccn.2004.10.009_bib11","first-page":"657","article-title":"The pathology of the feline model of mucopolysaccharidosis VI","volume":"101","author":"Haskins","year":"1980","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.cccn.2004.10.009_bib12","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1172\/JCI118617","article-title":"Enzyme replacement therapy in a feline model of Maroteaux\u2013Lamy syndrome","volume":"97","author":"Crawley","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.cccn.2004.10.009_bib13","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1172\/JCI119208","article-title":"Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI","volume":"99","author":"Crawley","year":"1997","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.cccn.2004.10.009_bib14","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S8756-3282(97)00175-0","article-title":"Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI","volume":"21","author":"Byers","year":"1997","journal-title":"Bone"},{"key":"10.1016\/j.cccn.2004.10.009_bib15","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S1096-7192(03)00007-6","article-title":"Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy","volume":"78","author":"Auclair","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cccn.2004.10.009_bib16","first-page":"582","article-title":"A phase I\/II study of enzyme replacement therapy (ERT) for mucopolysaccharidosis VI (MPS VI; Maroteaux\u2013Lamy syndrome): 48 week progress report","volume":"71","author":"Harmatz","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cccn.2004.10.009_bib17","first-page":"623","article-title":"A phase I open-label clinical study of efficacy and safety of recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome)","volume":"73","author":"Harmatz","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cccn.2004.10.009_bib18","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.jpeds.2004.03.018","article-title":"Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome)","volume":"144","author":"Harmatz","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.cccn.2004.10.009_bib19","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.cccn.2004.10.009_bib20","first-page":"710","article-title":"Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients","volume":"48","author":"Brooks","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cccn.2004.10.009_bib21","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1042\/bj2840789","article-title":"Correction of human mucopolysaccharidosis type-VI fibroblast with recombinant N-acetylgalactosamine-4-sulphatase","volume":"284","author":"Anson","year":"1992","journal-title":"Biochem. J."},{"key":"10.1016\/j.cccn.2004.10.009_bib22","doi-asserted-by":"crossref","first-page":"27259","DOI":"10.1074\/jbc.271.44.27259","article-title":"Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease","volume":"271","author":"Yogalingam","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cccn.2004.10.009_bib23","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1042\/bj2480755","article-title":"Human N-acetylgalactosamine 4-sulphate sulphatase: purification, monoclonal antibody production and native and subunit Mr values","volume":"248","author":"Gibson","year":"1987","journal-title":"Biochem. J."},{"key":"10.1016\/j.cccn.2004.10.009_bib24","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1006\/bmmb.1994.1058","article-title":"Immunochemical characterization of feline and human N-acetylgalactosamine 4-sulfatase","volume":"53","author":"Brooks","year":"1994","journal-title":"Biochem. Med. Metabol. Biol."},{"key":"10.1016\/j.cccn.2004.10.009_bib25","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1093\/clinchem\/46.9.1318","article-title":"Determination of acid \u03b1-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders","volume":"46","author":"Umapathysivam","year":"2000","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cccn.2004.10.009_bib26","doi-asserted-by":"crossref","first-page":"257","DOI":"10.5694\/j.1326-5377.1982.tb132293.x","article-title":"Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period","volume":"1","author":"Hopwood","year":"1982","journal-title":"Med. J. Aust."},{"key":"10.1016\/j.cccn.2004.10.009_bib27","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with Folin Phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cccn.2004.10.009_bib28","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1093\/clinchem\/47.12.2098","article-title":"Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper","volume":"47","author":"Chamoles","year":"2001","journal-title":"Clin. Chem."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898104005091?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898104005091?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T23:08:22Z","timestamp":1625267302000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898104005091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":28,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S0009898104005091"],"URL":"https:\/\/doi.org\/10.1016\/j.cccn.2004.10.009","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}