{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:29:18Z","timestamp":1762003758863},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3895,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2005,2,15]]},"DOI":"10.1002\/ajmg.a.30552","type":"journal-article","created":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T15:50:47Z","timestamp":1105026647000},"page":"85-89","source":"Crossref","is-referenced-by-count":20,"title":["An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene"],"prefix":"10.1002","volume":"133A","author":[{"given":"Orazio","family":"Gabrielli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni V.","family":"Coppa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Bruni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guglielmo R.D.","family":"Villani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianfranco","family":"Pontarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Di Natale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005]]},"reference":[{"key":"10.1002\/ajmg.a.30552-BIB1","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/hmg\/6.5.787","volume":"6","author":"Blanch","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30552-BIB2","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X","volume":"10","author":"Bunge","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1002\/ajmg.a.30552-BIB3","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/adc.69.3.403","volume":"69","author":"Cleary","year":"1993","journal-title":"Arch Dis Child"},{"key":"10.1002\/ajmg.a.30552-BIB4","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1159\/000241046","volume":"33","author":"Coppa","year":"1978","journal-title":"Biol Neonate"},{"key":"10.1002\/ajmg.a.30552-BIB5","first-page":"419","volume":"42","author":"Coppa","year":"1987","journal-title":"Helv Paediat Acta"},{"key":"10.1002\/ajmg.a.30552-BIB6","first-page":"165","volume":"50","author":"Date","year":"1998","journal-title":"Brain Nerve"},{"key":"10.1002\/ajmg.a.30552-BIB7","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P","volume":"11","author":"Di Natale","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/ajmg.a.30552-BIB8","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1034\/j.1399-0004.2003.00053.x","volume":"63","author":"Di Natale","year":"2003","journal-title":"Clin Genet"},{"key":"10.1002\/ajmg.a.30552-BIB9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0925-4439(99)00118-0","volume":"1501","author":"Esposito","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/ajmg.a.30552-BIB10","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/BF01799255","volume":"19","author":"Karpova","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"10.1002\/ajmg.a.30552-BIB11","volume-title":"The Bender Gestalt Test for young children","author":"Koppitz","year":"1964","unstructured":"1964. The Bender Gestalt Test for young children. New York: Grune & Stratton."},{"key":"10.1002\/ajmg.a.30552-BIB12","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.1320530308","volume":"53","author":"Lindor","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30552-BIB13","first-page":"777","volume":"73","author":"Miyazaki","year":"2002","journal-title":"JNNP"},{"key":"10.1002\/ajmg.a.30552-BIB14","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F","volume":"12","author":"Montfort","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/ajmg.a.30552-BIB15","first-page":"3421","volume-title":"The metabolic & molecular bases of inherited disease","author":"Neufeld","year":"2001","unstructured":"2001. The mucopolysaccharidoses. In: editors. The metabolic & molecular bases of inherited disease, 8th edn. New York: McGraw-Hill. pp 3421-3452."},{"key":"10.1002\/ajmg.a.30552-BIB16","doi-asserted-by":"crossref","first-page":"37193","DOI":"10.1074\/jbc.274.52.37193","volume":"274","author":"Perkins","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1002\/ajmg.a.30552-BIB17","volume-title":"Raven's standard progressive matrices. Sets A-B","author":"Raven","year":"1938","unstructured":"1938. Raven's standard progressive matrices. Sets A-B. Oxford: Oxford Psychologist Press Ltd."},{"key":"10.1002\/ajmg.a.30552-BIB18","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1093\/hmg\/2.9.1471","volume":"2","author":"Scott","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30552-BIB19","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/ng1295-465","volume":"11","author":"Scott","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30552-BIB20","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/adc.45.244.755","volume":"45","author":"Tanner","year":"1970","journal-title":"Arch Dis Child"},{"key":"10.1002\/ajmg.a.30552-BIB21","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1399-0004.1981.tb01821.x","volume":"20","author":"Van De Kamp","year":"1981","journal-title":"Clin Genet"},{"key":"10.1002\/ajmg.a.30552-BIB22","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/ajmg.a.20068","volume":"118","author":"Van Hove","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30552-BIB23","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1093\/hmg\/6.9.1573","volume":"6","author":"Weber","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30552-BIB24","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1023\/A:1005362826552","volume":"21","author":"Weber","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/ajmg.a.30552-BIB25","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1055\/s-2008-1052551","volume":"16","author":"Wisniewski","year":"1985","journal-title":"Neuropediatrics"},{"key":"10.1002\/ajmg.a.30552-BIB26","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/humu.1189","volume":"18","author":"Yogalingam","year":"2001","journal-title":"Hum Mutat"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30552","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.a.30552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T20:20:30Z","timestamp":1625084430000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,2,15]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30552","relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}