{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:51:32Z","timestamp":1790070692356,"version":"4.0.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,8,1]],"date-time":"2000-08-01T00:00:00Z","timestamp":965088000000},"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":["Genomics"],"published-print":{"date-parts":[[2000,8]]},"DOI":"10.1006\/geno.2000.6275","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T22:31:03Z","timestamp":1032301863000},"page":"80-84","source":"Crossref","is-referenced-by-count":25,"title":["Canine Heparan Sulfate Sulfamidase and the Molecular Pathology Underlying Sanfilippo Syndrome Type A in Dachshunds"],"prefix":"10.1006","volume":"68","author":[{"given":"Elena L.","family":"Aronovich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.Paige","family":"Carmichael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Morizono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis G.","family":"Koutlas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minerva","family":"Deanching","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Hoganson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chester B.","family":"Whitley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/geno.2000.6275_RF1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/S0022-2836(77)80200-3","article-title":"The Protein Data Bank: A computer-based archival file for macromolecular structures","volume":"112","author":"Bernstein","year":"1977","journal-title":"J. Mol. Biol."},{"key":"10.1006\/geno.2000.6275_RF2","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1089\/hum.1996.7.16-1965","article-title":"Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer","volume":"7","author":"Bielicki","year":"1996","journal-title":"Hum. Gene Ther."},{"key":"10.1006\/geno.2000.6275_RF3","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1042\/bj3290145","article-title":"Recombinant human sulphamidase: Expression, amplification, purification and characterization","volume":"329","author":"Bielicki","year":"1998","journal-title":"Biochem. J."},{"key":"10.1006\/geno.2000.6275_RF4","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/hmg\/6.5.787","article-title":"Molecular defects in Sanfilippo syndrome type A","volume":"6","author":"Blanch","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.2000.6275_RF5","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0969-2126(97)00185-8","article-title":"Structure of a human lysosomal sulfatase","volume":"5","author":"Bond","year":"1997","journal-title":"Structure"},{"key":"10.1006\/geno.2000.6275_RF6","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X","article-title":"Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)","volume":"10","author":"Bunge","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1006\/geno.2000.6275_RF7","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/geno.1994.1621","article-title":"Murine \u03b1-l-iduronidase: cDNA isolation and expression","volume":"24","author":"Clarke","year":"1994","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6275_RF8","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P","article-title":"Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations","volume":"11","author":"Di Natale","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1006\/geno.2000.6275_RF9","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1203\/00006450-199807000-00012","article-title":"Sulfamidase deficiency in a family of Dachshunds: A canine model of mucopolysaccharidosis IIIA (Sanfilippo A)","volume":"44","author":"Fischer","year":"1998","journal-title":"Pediatr. Res."},{"key":"10.1006\/geno.2000.6275_RF10","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/0092-8674(95)90367-4","article-title":"A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy","volume":"81","author":"Franco","year":"1995","journal-title":"Cell"},{"key":"10.1006\/geno.2000.6275_RF11","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1006\/geno.1999.5825","article-title":"Molecular basis of feline \u03b2-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII","volume":"58","author":"Fyfe","year":"1999","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6275_RF12","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1093\/protein\/3.5.433","article-title":"Sequence differences between glycosylated and non-glycosylated Asn-X-Thr\/Ser acceptor sites: Implications for protein engineering","volume":"3","author":"Gavel","year":"1990","journal-title":"Protein Eng."},{"key":"10.1006\/geno.2000.6275_RF13","first-page":"597","article-title":"Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: Toward mutation mapping of the iduronate-2-sulfatase gene","volume":"56","author":"Jonsson","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2000.6275_RF14","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1172\/JCI5731","article-title":"\u0394F508 CFTR protein expression in tissues from patients with cystic fibrosis","volume":"103","author":"K\u00e4lin","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1006\/geno.2000.6275_RF15","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1093\/dnares\/3.4.269","article-title":"Structure and sequence of the human sulphamidase gene","volume":"3","author":"Karageorgos","year":"1996","journal-title":"DNA Res."},{"key":"10.1006\/geno.2000.6275_RF16","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0006-291X(73)90807-3","article-title":"Mucopolysaccharidosis 3 A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes","volume":"54","author":"Kresse","year":"1973","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1006\/geno.2000.6275_RF17","doi-asserted-by":"crossref","first-page":"3654","DOI":"10.1021\/bi9714924","article-title":"Crystal structure of human arylsulfatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis","volume":"37","author":"Lukatela","year":"1998","journal-title":"Biochemistry"},{"key":"10.1006\/geno.2000.6275_RF18","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1007\/BF01799865","article-title":"Carrier detection for Sanfilippo A syndrome","volume":"11","author":"Matalon","year":"1988","journal-title":"J. Inherited Metab. Dis."},{"key":"10.1006\/geno.2000.6275_RF19","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":"J. Am. Med. Assoc."},{"key":"10.1006\/geno.2000.6275_RF20","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/0888-7543(90)90552-6","article-title":"Cloning and characterization of the human \u03b2-glucuronidase gene","volume":"7","author":"Miller","year":"1990","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6275_RF21","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1146\/annurev.bi.60.070191.001353","article-title":"Lysosomal storage diseases","volume":"60","author":"Neufeld","year":"1991","journal-title":"Annu. Rev. Biochem."},{"key":"10.1006\/geno.2000.6275_RF22","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"2465","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"1995"},{"key":"10.1006\/geno.2000.6275_RF23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/protein\/10.1.1","article-title":"Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites","volume":"10","author":"Nielsen","year":"1997","journal-title":"Protein Eng."},{"key":"10.1006\/geno.2000.6275_RF24","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/S0959-437X(97)80153-0","article-title":"The sulfatase gene family","volume":"7","author":"Parenti","year":"1997","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1006\/geno.2000.6275_RF25","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1006\/geno.2000.6275_RF26","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1006\/geno.1997.5189","article-title":"Cloning of the canine \u03b2-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells","volume":"48","author":"Ray","year":"1998","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6275_RF27","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/S0076-6879(96)66033-9","article-title":"PHD: Predicting one-dimensional protein structure by profile-based neural networks","volume":"266","author":"Rost","year":"1996","journal-title":"Methods Enzymol."},{"key":"10.1006\/geno.2000.6275_RF28","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/S0968-0004(00)89080-5","article-title":"RasMol\u2014Biomolecular graphics for all","volume":"20","author":"Sayle","year":"1995","journal-title":"Trends Biochem. Sci."},{"key":"10.1006\/geno.2000.6275_RF29","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ng1295-465","article-title":"Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome","volume":"11","author":"Scott","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1006\/geno.2000.6275_RF30","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/0006-291X(91)91244-7","article-title":"Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase","volume":"181","author":"Tomatsu","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1006\/geno.2000.6275_RF31","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1093\/hmg\/6.9.1573","article-title":"Novel mutations in Sanfilippo A syndrome: Implications for enzyme function","volume":"6","author":"Weber","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.2000.6275_RF32","series-title":"McKusick's Heritable Diseases of Connective Tissue","first-page":"367","article-title":"The mucopolysaccharidoses","author":"Whitley","year":"1993"}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S088875430096275X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S088875430096275X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T03:57:47Z","timestamp":1557374267000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S088875430096275X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,8]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,8]]}},"alternative-id":["S088875430096275X"],"URL":"https:\/\/doi.org\/10.1006\/geno.2000.6275","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[2000,8]]}}}