{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T01:12:02Z","timestamp":1649034722915},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2010,6,9]],"date-time":"2010-06-09T00:00:00Z","timestamp":1276041600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmologe"],"published-print":{"date-parts":[[2010,7]]},"DOI":"10.1007\/s00347-009-2107-x","type":"journal-article","created":{"date-parts":[[2010,6,7]],"date-time":"2010-06-07T07:08:57Z","timestamp":1275894537000},"page":"612-615","source":"Crossref","is-referenced-by-count":2,"title":["Genetik der neuronalen Zeroidlipofuszinosen"],"prefix":"10.1007","volume":"107","author":[{"given":"M.N.","family":"Preising","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Lorenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,6,9]]},"reference":[{"key":"2107_CR1","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.bbamcr.2008.11.004","volume":"1793","author":"Jalanko","year":"2009","unstructured":"Jalanko A, Braulke T (2009) Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 1793(4):697\u2013709","journal-title":"Biochim Biophys Acta"},{"key":"2107_CR2","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.bbadis.2006.05.007","volume":"1762","author":"Kyttala","year":"2006","unstructured":"Kyttala A, Lahtinen U, Braulke T et al (2006) Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta 1762(10):920\u2013933","journal-title":"Biochim Biophys Acta"},{"key":"2107_CR3","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/7.2.291","volume":"7","author":"Mitchison","year":"1998","unstructured":"Mitchison HM, Hofmann SL, Becerra CHR et al (1998) Mutations In The Palmitoyl-Protein Thioesterase gene (PPT CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7(2):291\u2013297","journal-title":"Hum Mol Genet"},{"key":"2107_CR4","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","volume":"6","author":"Mole","year":"2005","unstructured":"Mole SE, Williams RE, Goebel HH (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6(3):107\u2013126","journal-title":"Neurogenetics"},{"key":"2107_CR5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S1525-1578(10)60519-3","volume":"6","author":"Rothberg","year":"2004","unstructured":"Rothberg PG, Ramirez-Montealegre D, Frazier SD et al (2004) Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn 6(3):260\u2013263","journal-title":"J Mol Diagn"},{"key":"2107_CR6","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/S0387-7604(88)80075-5","volume":"10","author":"Santavuori","year":"1988","unstructured":"Santavuori P (1988) Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 10(2):80\u201383","journal-title":"Brain Dev"},{"key":"2107_CR7","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.bbadis.2006.05.006","volume":"1762","author":"Siintola","year":"2006","unstructured":"Siintola E, Lehesjoki AE, Mole SE (2006) Molecular genetics of the NCLs \u2013 status and perspectives. Biochim Biophys Acta 1762(10):857\u2013864","journal-title":"Biochim Biophys Acta"},{"key":"2107_CR8","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1093\/brain\/awl107","volume":"129","author":"Siintola","year":"2006","unstructured":"Siintola E, Partanen S, Stromme P et al (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129(Pt 6):1438\u20131445","journal-title":"Brain"},{"key":"2107_CR9","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","volume":"78","author":"Steinfeld","year":"2006","unstructured":"Steinfeld R, Reinhardt K, Schreiber K et al (2006) Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78(6):988\u2013998","journal-title":"Am J Hum Genet"},{"key":"2107_CR10","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.bbadis.2006.07.001","volume":"1762","author":"Williams","year":"2006","unstructured":"Williams RE, Aberg L, Autti T et al (2006) Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 1762(10):865\u2013872","journal-title":"Biochim Biophys Acta"}],"container-title":["Der Ophthalmologe"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00347-009-2107-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00347-009-2107-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00347-009-2107-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T09:50:59Z","timestamp":1559037059000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00347-009-2107-x"}},"subtitle":["Aspekte der humangenetischen Beratung"],"short-title":[],"issued":{"date-parts":[[2010,6,9]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["2107"],"URL":"https:\/\/doi.org\/10.1007\/s00347-009-2107-x","relation":{},"ISSN":["0941-293X","1433-0423"],"issn-type":[{"value":"0941-293X","type":"print"},{"value":"1433-0423","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,9]]}}}