{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T04:18:55Z","timestamp":1759033135745},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"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":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2001,1]]},"DOI":"10.1053\/ejpn.2000.0461","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T07:10:57Z","timestamp":1166080257000},"page":"193-196","source":"Crossref","is-referenced-by-count":13,"special_numbering":"S1","title":["Pre- and postnatal diagnosis of patients withCLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities"],"prefix":"10.1053","volume":"5","author":[{"given":"Elisabeth P.","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viki C.","family":"Worthington","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan G.","family":"Winchester","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/ejpn.2000.0461_bib1","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/376584a0","article-title":"Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis","volume":"376","author":"Vesa","year":"1995","journal-title":"Nature"},{"key":"10.1053\/ejpn.2000.0461_bib2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/7.2.291","article-title":"Mutations in the palmitoyl-protein thioesterase gene (PPT; CLNI) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits","volume":"7","author":"Mitchison","year":"1998","journal-title":"Hum Mol Gen"},{"key":"10.1053\/ejpn.2000.0461_bib3","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","article-title":"Association of mutations in a lysosomal protein with classical lateinfantile neuronal ceroid lipofuscinosis","volume":"277","author":"Sleat","year":"1997","journal-title":"Science"},{"key":"10.1053\/ejpn.2000.0461_bib4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0014-5793(98)01683-4","article-title":"Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I","volume":"443","author":"Vines","year":"1999","journal-title":"FEBS Lett"},{"key":"10.1053\/ejpn.2000.0461_bib5","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","article-title":"Isolation of a novel gene underlying Batten disease, CLN3","volume":"82","author":"The International Batten Disease Consortium","year":"1995","journal-title":"Cell"},{"key":"10.1053\/ejpn.2000.0461_bib6","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0009-8981(77)90126-7","article-title":"The laboratory diagnosis of Sanfilippo disease","volume":"76","author":"Whiteman","year":"1977","journal-title":"Clin Chim Acta"},{"key":"10.1053\/ejpn.2000.0461_bib7","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/0003-2697(85)90442-7","article-title":"Measurement of protein using bicinchoninic acid","volume":"150","author":"Smith","year":"1985","journal-title":"Anal Biochem"},{"key":"10.1053\/ejpn.2000.0461_bib8","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1006\/mgme.1999.2809","article-title":"A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL","volume":"66","author":"van Diggelen","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1053\/ejpn.2000.0461_bib9","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/(SICI)1097-0223(200004)20:4<337::AID-PD811>3.0.CO;2-#","article-title":"Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi","volume":"20","author":"Young","year":"2000","journal-title":"Prenat Diagn"},{"key":"10.1053\/ejpn.2000.0461_bib10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1750-3639.1998.tb00141.x","article-title":"Prenatal diagnosis of lysosomal storage diseases","volume":"8","author":"Lake","year":"1998","journal-title":"Brain Pathol"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379805800376?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379805800376?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T16:56:50Z","timestamp":1547139410000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379805800376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":10,"alternative-id":["S1090379805800376"],"URL":"https:\/\/doi.org\/10.1053\/ejpn.2000.0461","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}