{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:20:04Z","timestamp":1790389204289,"version":"4.1.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2012,11,22]],"date-time":"2012-11-22T00:00:00Z","timestamp":1353542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1007\/s12098-012-0889-3","type":"journal-article","created":{"date-parts":[[2012,11,22]],"date-time":"2012-11-22T13:14:50Z","timestamp":1353590090000},"page":"694-696","source":"Crossref","is-referenced-by-count":5,"title":["CLN6 p.I154del Mutation Causing Late Infantile Neuronal Ceroid Lipofuscinosis in a Large Consanguineous Moroccan Family"],"prefix":"10.1007","volume":"80","author":[{"given":"Ahmed","family":"Bouhouche","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafae","family":"Regragui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmostafa","family":"El Fahime","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naima","family":"Bouslam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachid","family":"Tazi-Ahnini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marouane","family":"Melloul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Benomar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Yahyaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,11,22]]},"reference":[{"key":"889_CR1","unstructured":"Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. In: Pagon RA, Bird TD, Dolan CR, Stephens K,Adam MP, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Oct 10 [updated 2010 Mar 02]."},{"key":"889_CR2","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.ajhg.2011.04.004","volume":"88","author":"T Arsov","year":"2011","unstructured":"Arsov T, Smith KR, Damiano J, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011;88:566\u201373.","journal-title":"Am J Hum Genet."},{"key":"889_CR3","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/j.1750-3639.2003.tb00486.x","volume":"13","author":"PC Nijssen","year":"2003","unstructured":"Nijssen PC, Ceuterick C, van Diggelen OP, et al. Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol. 2003;13:574\u201381.","journal-title":"Brain Pathol."},{"key":"889_CR4","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.bbadis.2006.06.010","volume":"1762","author":"M Haltia","year":"2006","unstructured":"Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta. 2006;1762:850\u20136.","journal-title":"Biochim Biophys Acta."},{"key":"889_CR5","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.21624","volume":"33","author":"M Kousi","year":"2012","unstructured":"Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mut. 2012;33:42\u201363.","journal-title":"Hum Mut."},{"key":"889_CR6","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00415-003-1050-z","volume":"250","author":"C Teixeira","year":"2003","unstructured":"Teixeira C, Guimar\u00e3es A, Bessa C, et al. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J Neurol. 2003;250:661\u20137.","journal-title":"J Neurol."},{"key":"889_CR7","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1086\/338708","volume":"70","author":"RB Wheeler","year":"2002","unstructured":"Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet. 2002;70:537\u201342.","journal-title":"Am J Hum Genet."},{"key":"889_CR8","doi-asserted-by":"crossref","first-page":"115","DOI":"10.2174\/138920208784139573","volume":"9","author":"NE Muzaffar","year":"2008","unstructured":"Muzaffar NE, Pearce DA. Analysis of NCL proteins from an evolutionary standpoint. Curr Genomics. 2008;9:115\u201336.","journal-title":"Curr Genomics."},{"key":"889_CR9","doi-asserted-by":"crossref","first-page":"22347","DOI":"10.1074\/jbc.M400643200","volume":"279","author":"C Heine","year":"2004","unstructured":"Heine C, Koch B, Storch S, Kohlsch\u00fctter A, Palmer DN, Braulke T. Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase. A J Biol Chem. 2004;279:22347\u201352.","journal-title":"A J Biol Chem."},{"key":"889_CR10","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1007\/s00018-010-0468-6","volume":"68","author":"AL Getty","year":"2011","unstructured":"Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci. 2011;68:453\u201374.","journal-title":"Cell Mol Life Sci."}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-012-0889-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-012-0889-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-012-0889-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T23:57:16Z","timestamp":1559433436000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-012-0889-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,22]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["889"],"URL":"https:\/\/doi.org\/10.1007\/s12098-012-0889-3","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,22]]}}}