{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:49Z","timestamp":1761101749917},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Using Western blot analysis and the ELISA technique, we showed previously significantly higher levels of subunit c in the urine of individuals with late\u2010infantile neuronal ceroid lipofuscinosis (LINCL) and some patients with juvenile NCL (JNCL) [Wisniewski et al., J Inherited Metab Dis 17:205\u2013210, 1994]. In an attempt to develop a diagnostic screening test for NCL based on detection of this biochemical marker in urine, we analyzed, using the blotting technique, urine from 7 infantile NCL (INCL), 17 LINCL, and 19 JNCL cases, 30 obligate heterozygotes, and 60 control cases. This analysis confirmed our former data showing significantly higher levels of subunit c in the urine from all LINCL and some JNCL cases. No false positive results were found. This simple analytical method may serve as a fast, non\u2010invasive screening test for NCL. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570227","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"246-249","source":"Crossref","is-referenced-by-count":12,"title":["Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid\u2010lipofuscinoses"],"prefix":"10.1002","volume":"57","author":[{"given":"Krystyna E.","family":"Wisniewski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wojciech","family":"Kaczmarski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam A.","family":"Golabek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elzbieta","family":"Kida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313027709085236"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310611"},{"key":"e_1_2_1_4_1","first-page":"139","article-title":"Late infantile storage disease with curvilinear bodies: Systemic pathologic features","volume":"100","author":"de Baecque CM","year":"1976","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_5_1","first-page":"487","article-title":"Lymphocytes and urine in ceroid lipofuscinosis","volume":"104","author":"Dolman CL","year":"1980","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_6_1","unstructured":"DykenP WisniewskiKE(1994):Classification and atypical forms of neuronal ceroid lipofuscinoses. Paper 60. Newark NJ: Fifth International Conference on Neuronal Ceroid Lipofuscinosis May 18\u201020."},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2680751"},{"key":"e_1_2_1_8_1","unstructured":"GoebelHH GullottaP BajanowskiT HansenFJ(1994):The pigment variant of neuronal ceroid\u2010lipofuscinosis (NCL). Paper 62. Newark NJ: Fifth International Conference on Neuronal Ceroid Lipofuscinoses May 18\u201020."},{"key":"e_1_2_1_9_1","unstructured":"HainesJL BoustanyR\u2010M WorsterT Ter\u2010MinassiaM JondroP LcrnerTJ(1994):A genome\u2010wide search for the late\u2010infantile NCL gene CLN2. Paper 3. 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Newark NJ: Fifth International Conference on Neuronal Ceroid Lipofuscinosis May 18\u201020."},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130717"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420420"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711619"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410190308"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570227","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:20:35Z","timestamp":1698333635000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570227"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570227","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}