{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T14:13:34Z","timestamp":1712326414350},"reference-count":10,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2008,10,1]],"date-time":"2008-10-01T00:00:00Z","timestamp":1222819200000},"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":["Brain and Development"],"published-print":{"date-parts":[[2008,10]]},"DOI":"10.1016\/j.braindev.2008.01.012","type":"journal-article","created":{"date-parts":[[2008,4,21]],"date-time":"2008-04-21T20:22:33Z","timestamp":1208809353000},"page":"595-598","source":"Crossref","is-referenced-by-count":8,"title":["A case of galactosialidosis with a homozygous Q49R point mutation"],"prefix":"10.1016","volume":"30","author":[{"given":"Naoko","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Gondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johji","family":"Kukita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsumi","family":"Higaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubigilda C.","family":"Paragison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2008.01.012_bib1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q","article-title":"Early-infantile galactosialidosis: clinical biochemical, and molecular observations in a new patient","volume":"64","author":"Zammarchi","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.braindev.2008.01.012_bib2","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1172\/JCI116472","article-title":"Protective protein gene mutations in galactosialidosis","volume":"91","author":"Shimmoto","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.braindev.2008.01.012_bib3","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/S1096-7192(03)00005-2","article-title":"New mutations in two Dutch patients with early infantile galactosialidosis","volume":"78","author":"Groener","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.braindev.2008.01.012_bib4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0009-8981(97)00141-1","article-title":"Fetal diagnosis of galactosialidosis (protective protein\/cathepsin A deficiency)","volume":"266","author":"Itoh","year":"1997","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.braindev.2008.01.012_bib5","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1023\/A:1005598517882","article-title":"A case with early infantile form of galactosialidosis with unusual haematological findings","volume":"22","author":"Tekinalp","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.braindev.2008.01.012_bib6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1046\/j.1365-2133.2003.05488.x","article-title":"A case of galactosialidosis","volume":"149","author":"Nobeyama","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.braindev.2008.01.012_bib7","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0887-8994(98)00151-9","article-title":"Expression of protective protein in human tissue","volume":"20","author":"Sohma","year":"1999","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2008.01.012_bib8","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(84)80997-X","article-title":"Congenital ascites as a presenting sign of lysosomal storage disease","volume":"104","author":"Gillan","year":"1984","journal-title":"J Pediatr"},{"key":"10.1016\/j.braindev.2008.01.012_bib9","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1007\/BF00441499","article-title":"Infantile form of sialic acid disorder: clinical, ultrastructural, and biochemical studies in two siblings","volume":"139","author":"Tondeur","year":"1982","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.braindev.2008.01.012_bib10","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2004.02.007","article-title":"New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase\/neuraminidase complex and the EBP-receptor","volume":"82","author":"Malvagia","year":"2004","journal-title":"Mol Genet Metab"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760408000284?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760408000284?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,29]],"date-time":"2018-12-29T17:26:49Z","timestamp":1546104409000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760408000284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["S0387760408000284"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2008.01.012","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2008,10]]}}}